Subject Index

A C. elegans Data B ase .................acadian population ..........................

.......................................................1838

.....................................1943.2103,2117acanthocytosis ................................. .......................................................2061A C ED B ",........................................... .......................................................1838acetylcholine recep to r............................................................ 261,625.1994acid phosphatase locus........................................................................... 460acoustic neurom a....................................................................829,2044, 2106acoustic neurom aN F...................... ................................................829,2044acrocentric........................................ .......................................................1873acrocentric chromosomes 581,1985,1989,1990,2038,2043,2124,2130,2133,2144ac tin .......................................................... 338,403,429. 1991,1992,1993, 2115activator receptor...........................................................................2016,2110acute leukaem ia...........................................................1961,1969,2019.2106acute leukem ia................................. .....................................1949,1954, 1999acute lymphoblastic leukem ia ..... .1931,1980, 1989, 2005,2039,2106. 2107acute lymphocytic leukaem ia ...... ...............................................405. 1886

...................................................... 2027acute myelogeneous leukaemia ............................................................785acute myelogenous leu kem ia....... ...................................... 801.1915. 2042acute promyelocytic leukaemia ..........................................555,1992, 2005acute promyelocytic leukem ia..... ........................................................ 686acylpeptide hydro lase.................... ............................................... 171.1876adenocarcinom a............................... ............................................. 1857. 2104adenoma sebaceum ......................... .......................................................1940adenomatous polyposis............. 261,262,1080,1895,1899,1904,1905, 1906adenomatous polyposis co li....................1080,1895,1899,1904.1905,1906adenosine deam inase... . ..785adrenal hyperplasia......................... ........................................................ 431adrenergic recep to r......................... ........................................................382adrenom yeloneuropathy................ ...................................................... 2063A frican ............................................... ...................1126,1923,2030,2113, 2115agammaglobulinemia ..................... ........................... 2072.2077.2078.2091aeammaelobulinemia lo c u s .......... ............................................. 2072. 2078alb in ism .................. ............ .......... 233,986, 989, 1098.2058,2081,2098, 2111a lb in o ................................................. ...................................... 464, 2058,2134album in.............................................. ............................................... 556,2125alcoholism ......................................... ......................................................1972alopecia.............................................. ......................................................2078alpha en o lase .................................... ......................................................2008alpha globin pseudogene............... .... 2136alpha macroglobulin pseudogene.........................................................556alpha satellite fam ily ....................... ......................................................2130alpha spec trin ........... 1943altered locus sy m b o l....................... ........................................................296alveolar rhabdom yosarcom a........ ...................................................... 1873

986 987 2011 2039 2140am aurosis.......................................... ...................................................... 2109ambiguous g en ita lia ....................... ...................................................... 2070am elogenin........................................ ......................................967.2088,2131am ethopterin..................................... ........................................................337ami do transferase.............................. ...................................................... 2124am iloride...................... 337amiloride binding p ro te in .......................................................................337am inoacylase.................. 171

androgen rece p to r ............................ ....................................................... 990anesthesia induced d e a th ............... ..................................................... 2018aneuploidy detection ....................... ............................................ 2148,2149angiogenesis...................................... ............................................ 1948. 2051angiogenic fac to r.............................. .............................................. 827.2051angiogenin......................................... .............................................. 605, 2001an irid ia ................................................ ............460,990,1956,1967.1970,1973aniridia lo cu s ..................................... ..................................................... 1973ankyloglossia.................................... ..................................................... 2085an kyrin ................................... ............ ................................................232,383ankyrin gene fam ily ........................ ....................................................... 232an n ex in ............................................... ................................................232,431annexin gene fam ily ........................antipsychotic c lozap in e ...... ........... ..................................................... I960a n u s ..................................................... ..................................................... 2091aortic aneurysm .................... ............ ..................................................... 1872aph id ico lin ........................................apolipoprotein........ 144,460,625.626,688,1970, 1977, 1995.2001,2124.2148apolipoprotein recep to r.................. .............................................. 556,1977apolipoprotein receptor lo cu s ....... .......................................................556apolipoprotein regulatory protein ...................................................... 1995apoprotein.......................................... ....................................................... 986Apple M acin tosh .............................. ................................... 1834,1836, 1838aqucducial stenosis.......................... .....................................................2079arthroervDosis................................ .......................................800 988 2035artificial chromosomes 468,626,802,1895,1905,1916.1964,2060.2064,2074,2079.2093.2141asialoglycoprotein recep to r........... ..............................................688. 2010asparatic protease fam ily ..................................................................... 1856asnecific hybrid ization.................... .....................................................2039ataxia ....143,297,405,606, 1910,1912, 1913,1915, 1916,1918,1934,1936,1938,1939,1943. 1944,1955, 1956,1957,1959,1962, 1963,1965,1967,2054,2099.2100,2103,2109,2112,2114,2117,2120 ataxia lo c u s ........................................ ...................405. 1934,1936.1938,1939ataxia telangiectasia............... .....606. 1956r 1957 1959 1963 1967ataxia telangiectasia lo cu s .............. .....................................................1956athcrogenesis..................................... ................................................382, 383atherosclerosis.................................. ............................................ 1852,2148atrial septral d e fe c t................................................................................1995Australian fam ily ............................. ..............................................404, 1875autoimmune d isease ......................... ............................................1896, 1987autoimmune m yo card itis .....................................................................2001autosomal lo c u s ................................ .....................................................2023axial m yo p ia ...................................... .................................................... 2065

backcross .. 145, 828,1943.2023,2045, 2061,2073, 2074,2125,2134,2135,2136,2137,2138basal cell carcinom a......................... ............................................. 105,1853benign tu m o u r........................................... 606benzodiazepine rece p to r ................................................................827.20*5beta crystallin ............................................................................ 827beta en o lase ..............................................................................................2008beta enolase lo c u s ................................. „.......................................... ....2008beta pseudo g e n e ........................................ 1896betaglucuronidase.................................................„...............................2138biom ineralization...............................................................................„...2088biotinylation .......................................................... 1920bipolar manic depression ................................................................ 460

Index 2173

bladder carcinom a............. 1974blood g ro up .................. 338,403,406,1097,1854,1855,1862,1927,1937,2016blood group locus..........................................................338,1927,1937, 2016blood groupscrum .................. 1885blood v e sse l............... 605bom besin.................................... ......................................... .............296,1909bone marrow transplantation......................... 1966bone morphogenetic p ro te in .............. 231,382breast cancer 171,299,463,644.686,688.800.1098,1877,1881,1882,2002,2010,2107breast tu m o u r........................................................................................-.1853British fam ily ........ ...........- ...................................................................1872B R O W SE R ................................... 1838bulbar muscular a tro p h y ................................................................990,2064

ccadherin ...............................................................................................403,739cadherin fam ily .........................................................................................739cadherin superfam ily ........................................................................403,739ca ffe in e ................................................................................... 2016,2018,2025calbindin........................................................................................... 383,1930calcitoninCG RP.......... ......... 2103calcium binding p ro te in ...................................................103,430,751, 1930calcium ch an n e l........................................................................................555calcium release channel..............................................2017,2018,2023,2134calcyphosine.............................................................................................. 751calm odulin............................. 430,751,828, 1930, 1951, 1989,2021,2046,2049calmodulin fam ily ...................................................................................1930calmodulin multigcne fam ily ............................................................... 1951calmodulin pseudogene...... ................................................................. 1951calmodulin superfam ily.......................................................................... 751ca lp ain .............................................................................- ........... ........... 1898calpastatin ..........................................................................................261,1898calreliculin..................................................................................................756calrctinin ..................................................................................................... 383cancer incidence ................................................................. 1962,1965,1967candidate lo cu s ..........................................................................236.299,1908cannabinoid receptor ............. - .......................................................295.1915carcinoembryonic antigen ..................................................................—751cardiac m u sc le ........................ ..................... —.104.296.556,739,1992,1993cardiac myosin ............................................................................. 2102,2103cardiomyopathy ...................... .........1104,2053,2088,2102,2117,2121,2122carnitine palmiloyl transferase......................... 104carrier female ...............................................................- .....................2059cartilage matrix p ro te in ............................................................ - .......... 103casein k in a se ............................................. - ............................................ 295cassette......................................................... ................................... - .......2151c a t .....................—...........................................................1124,1125,1127,2131cataract............................ ...............................................1097,1868,2103,2118cataract lo cu s .......................... .............................................. 1868,2103,2118cation channe l.......................................................................................... 1886causal mutation .....................................................233,1872,2023, 2102,2130causing m u ta tio n ................................................... 1922CD-ROM .......................................................- ................ - ................... 1838cell adhesion.................................................... 103,403,739,1852,2013,2019cell c y c le .......................................... 232, 384,430,752,1951,2013,2129,2138cell d iv is io n ..........— ...........................................................................2138cell fusion —..........— -.......................................................... 232,404,1970cell hybrid 170.232,264,295,337,338.339,346,383.403,404,429.430,432,468, 557,580,582,647,687,691,739,785.786, 827, 828,829,1100,1850,1852. 1853, 1854,1863, 1870,1873, 1882, 1886, 1888,1889,1890,1892,1893,18%, 1897, 1905, 1914,1922,1924,1925,1926,1932,1934,1937,1941,1943.1945.1952,1954.1955.

1960.1961.1965,1%7,1973,1974,1978,1979,1980,1981.1983, 1984,1986,1989,1992,1995,1998,1999,2002,2004,2005,2006,2007,2008,2009, 2010,2011.2021. 2022.2025,2028,2031,2032,2039,2041.2043,2045,2046,2047.2048.2049,2051, 2060, 2062,2067, 2069, 2070.2072,2074,2080, 2081, 2084, 2087,2096,2153cell surface recep to r............................................................... ...............261cellular membrane recep to r................................................................. 1862cellular metabolism ......... ...........................cellular proliferation ....................................

..........................................1937

........................................... 232centromeric region lo c u s ....................................................................... 431ceram ide......................................................... ........................................... 462cerebellar a tax ia ...... 143,1910,1916,1955,1%2,1965,1%7.2099,2109,2112cerebelloparenchymal d isorder................. ......................................... 1910cerebral co rtex .............................................. ......................................... 2049cerebral p a lsy ................................................ ......................................... 1895cerebrotendinous xanthom atosis........ . __________________143,986ceru loplasm in............................................... ......................................... 2124chem otax is..............................-.................... .................................. 827,2045ch im eric.......................................................... ... 6. 802. 1939.1968.2050.2152chim nanzee...............................1868.1990. 2028. 2038.2126.2127.2132.2133chloramphenicol acetyltransferase gene .......................................... 1%2chloramphenicol res is tan ce ...................... ......................................... 1%2

........................................... 143cholesterol ..............................104,143,403,1866, 1880,1945,1970,2113,2148cholesterol m etabolism ............................... ......................................... 1945chondrodysplasia......................................... ......................................... 1895chorionic v i l lu s ......................-..................... ................................ 1899.1987choroiderem ia............................................... ....... 988, 2069,2077,2082. 2092chrom affin ..................................................... ........................................... 643chromosomal locus —__ _____________ _________ ____ 5,2014,2124Chromosome Information System ........... ..........................................1838chrom osome pa in tin g .......................... ...... ..... 1957,1981.2048,2058,2095chrom osome specific lo c u s ....................... ..................................... —.1983chromosome w a lk in g ................................. .............. 1857,1919,1934,2094chrom ycin...................................................... ......................................... 1942chronic myelogenous leu kem ia............... ..........................................1992ciliary b o d y ................................................... ..........................................1973CIS - ........ *...................................................... ..........................................1838cleft l ip ............................................................ ................ 145,1869,1872,2103cleft p a la te ..................................................... ...............1869.1872,1894,2085clozan in e ........................................................ .................................. 461. 1960cluster 104,105,108,142,143,144,146,233,262,339,384,460,461,463,556,580,581,605,643.686,687,751,753,756,827,828,986,1855,1868,1871,1900,1901,1913,1915,1916,1924,1925,1947,1949.1953,1955,1967,1970.1992,1994,1997,2002, 2010, 2011,2019, 2022.2029,2045, 2059,2062,2073,2076, 2079,2083,2085,2098.2118,2124.2131,2134clu sterin .......................................................... ........................................... 382coagulation fa c to r ........................................ ......... 605,828. 19%, 2073,2129cobalam in ...................................................... .................................. 461,1963coenate locus ................................................ .. .828collagen . 103,143,144,145,146,170,556,643,986,987,1872,1922,1976,1977.2127collagenase.................................................... ......... 461,643,1959,1974,2061colon c a n c e r .................................................. .................................1895.1899colony stimulating fac to r........................... ........................... 103, %7.2083colorectal cancer.......................................... ......................... 261,1903,1930combined hyperlipidem ia.......................... .................................... 460,986complement cascad e................................... ................ 382,1900,1931,2113complement com ponent.................. .......... ......... ......103,1900,2118,2127complement fac to r....................................... ........................................... 103complementation g roup .............................. ...........261,404,460,1959,1965com plex ....................................................................................................403computer .406,1100,1853,1866,1887,1903,1914,1949.1973,19%, 2000.2004,

2174 Index

D

2040,2065,2072. 2074, 2090,2102, 2103,2115. 2137, 2145,2146,2156conditional m utation ...................................................... 2093conductive hearing lo s s ....................................................................„...1894connexin .......................................................................... „...103,261,295,580connexin fam ily ........................................................................................ 103connexin gene fam ily .......................................................................295,580copper binding p ro te in .......................................................................... 2124copper metabolism .„„....................... 1983,2086copy number ..1926,1927,1985,1992,1997,2035,2043,2098.2132.2140.2144. 2148,2152coronary artery d isease .................................................................383,2148co rtiso l........................................................................................................ 605cosmid 232,233,235,236,262,264,298,339,383,405,406,432,462,463,468,470. 581,582, 643,644,687,691, 740,751,753, 754, 802, 1882, 1883, 1888,1889,1891. 1898,1899, 1901,1902, 1903,1904,1905,1912,1915,1916.1919,1923,1930,1932, 1934.1940. 1941,1945.1946,1947,1951.1957,1958.1963,1964,1971.1972, 1973, 1983,1984, 1987,1992, 1999,2000, 2002,2008,2011. 2018, 2021,2022,2038, 2039, 2062,2063, 2067,2069. 2070.2079, 2082, 2083, 2084,2085.2088,2093,2094, 2096, 2129,2141,2143,2147,2148,2149,2150,2151,2152,2154,2155cosm idcBegrecognis in g .............................................................. 1895cosm idPC R ................................................................................................462cranial neuropathy .................... 404craniofacial developm ent...............................................................299,1894craniofacial dysm orphism .................................................................... 1929craniosynostosis ..... 988c rea tin e .................. ........ .................................................. .............1903,1996creatine k in a se ........................... 1903crystallin ........................................................................... 144,827.2045,2052crystallin g en e .........................................................144,827,1954,2045,2052cyclic m en ses ..................................... 2070cyclical neutropenia ....„......................................................................... 2053c y c lin ................ 461cyclothym ia................................................................ 1973cystatin..„............................................................................................170,2029cystatin gene fam ily ...............................................................................2029cystic fibrosis .......................... .....339,987,990,1899,1920,1921,1925,1926cytochrome b ...................................................................................1929,2121cytochrome C ..................... 143,232,295,337,461.555,751.827cytochrome c ox idase ........................... 143,232,295, 337,461,555,751,827cytochrome o x id ase ...............................................................................2120cytokeratin.......... ............. ......................................................555,2009,2010cy tok ine........ .......................................... 687,688,752, 1870,1980,2008, 2027

dark adaptation ..............................................................................2056,2075database 143,468,686,687,1097,1100,1124,1125,1851,1859. 1868,1881,1882, 1898,1908,1926,1938,1948.1958,1962,1964,1974,1993.2005.2037.2060.2085. 2096,2111,2135,2145,2146,2150deafness . 144,464,605.987,988,1869,1988, 2063, 2084,2086,2099,2103,2112.2117,2120,2134decanucelotide p rim er.......................................................................... 2152decorin ....................................................................556, 1976.1977,1978,2069decorin probe ..... ................................................................... 1978deep tendon.................................................................... 1862.1903,1944depressive d isorder...................................... ...............................1966,1972desmosome ..................................................................................... 295,403diabetes 429.460,687,785,786.986,989,1098,1153,1154,1869.18%. 1912,1921.1962,2031.2032,2066,2103,2137,2138,2141diabetes m e llitu s ...................................................... 460,687, 785,1896, 2032diagnostic accuracy .................................................................. .............1983diaphorase ......................... 643diastrophic d y sp la sia ......................................................................261,1895

diazepam ............................................................ ....................... 144,295,461digoxygenin........... .............. 2154dihydrolipoyl transacylase............................................ 103dihydropyrid ine........................................... 555dinucleolide repeat .298,339,383,384,406, 829,1903,1908.1913,1932,2016, 2040,2085,2117,2141,2143dipeptidylpeptidase................................................................. ................144d ip lop ia .............................. ................... ........... ............... .............— 1912disease locus 105,145,262,429,430.431,459.581.624, 1099,1854,1875,1879, 1915,1916,1936,1948,1966,1970.1982,1983,1984,1999,2000, 2059.2060, 2071, 2082,2084,2086,2098,2103,2118

disequilibrium analysis. ......... .....................................................1918,2019d o c .................................... ....... ........................................................ 751.1125domestic d o g .................. ....................................................................... 1125domestic p i g ................... ............................................ 2123,2124,2129,2130dominant m utation........ .......................................................................2054dopamine ............. „...231, 1891,1892,1894, 1940. 1943, 1960,1965,2048, 2113dopamine beta hydroxylase.......................................................1943,2113dopamine recep to r.............................231,1891,1892, 1894, i960.1965.2113duodenal a tres ia ......... ............................................................ .............233dysmorphic .......................... .......582, 988, 1899,1931,1982,1995,2037,2102dysplasia .......................261.581,987,1895, 1984,2068,2086,2091,2105,2119dystonia canthorum ......................................... ........... ................... ......144dystonia lo c u s .................................................................................. ......1934dystrophin................................................... 1907, 1908, 1917,2062,2080,2139dystrophin lo c u s ........................................................ ..................... .....2080

eclam psia........................................... .................1851, 1986,2071,2098,2111ectodermal d ysp lasia ..................................................2068,2091.2105,2119eczema ........................................................ .......... .........- .................. 2071e la s tin ............................................................................................ 145,146,337electroencephalogram ........................... 785electron transfer..............................................................................1874,1929electron transport............................................................. 462,801,827,1103embryonal sa rco m a....................... 2006embryonic developm ent..... .............................. „1956E M G ............................................................... 1837enamel m a trix ................................................................................. 2088Encyclopedia o f the Mouse G en o m e....................................... „.„..„.1837endochondral ossification.......................... 231endocrine neoplasia 428,1947,1948,1949.1952,1954,1959,1960,1963,1964, 1970endocy tosis.................. 461,1963,2008endometrial p ro te in .................................. 403endom etrium ................................... ..............................................403,1935endoplasmic reticular p ro te in .......................................................626,1978endoplasmic reticulum ............................................................ 296,299,1880endothelin ...................................................... „„103endothelin gene fam ily .................... 103en o lase ...........................................................................1854,1977.2006, 2008ENTREZ

Sequences 1838eosinophil.........................eosinophilic ......................epicanthus eye fo ld .........epidermal growth fac to r.epidermal transglutam inase.........epidermolysis bullosa sim plex ....erythematous lamellar ichthyosis erythroblastosis v i ru s ....................

....... .......................................2021

......................................... 752

.....................................„2040

.................... 1900

................ 605555, 686,688,1854,2100,2114..............................................2112

........................................1928

Index 2175

erythrocyte.................................. ....................403. 60S, 625.1944,1996. 2115erythrocyte an tigen ............—................................................................ 2115erythrocyte m em brane....... .............- ........ _......... 403,605,625,1944,1996erythropoietic............ ............................................................... 429,739,2014erythropoietic porphyria.................................................... .......„.......... 429European wild b o a r ................ 1125excision ................................................................................ 404excision re p a ir .............................ex tracellular.................................extracellular m a trix ........... - .......eyebrow flare ................................

............................................ 404,429, 1984

............................................................ 103

..........103,142.337,1873,1935,1974,1977

.......................................................... 2091

facioscapulohumeral d isease .... ........................................ 1887,2101,2116facto r.............................................. .....................................231,261.430. 1890factor receptor.............................. ............................................................ 232familial an irid ia ........................... .......................................... 460.1967,1973ferredoxin ..................................... ..................................................... 462,801fe rritin ...........................................ferrochelatase...............................

.......................................................... 1913

................................... 739, 986,2014, 2100

hbrm ogen........ ..........................fibroblast ..231. 261.430.460, 581,fibroblast growth fa c to r ..........fibrodysplasia.............................

....... ...................................................... 556827,1890, 1948, 1970, 1986,2005.2014, 2051..... 231,261,430.827, 1890,1948,1970,2051...............................................................785

fibronectin.................................. ......................................................261,1976fibrosarcom a.............................. .............................................................1984fishy body o d o u r....................... .............................................................1863folate recep tor.........................................................................................1955folic a c id .................................................................................................. 1955follicular hyperkeratosis....................................................................... 2078forensic m edicine..................... ....................................................2141,2148f o s ................................................ ....................................................1989,2003fos o ncogene...........................................................................................1989fos oncogene fam ily ................. .............................................................1989fos oncoprotein fam ily ............ .............................................................1989

gelsolin ...... ...................................„................................. 403,404,1934.1943gelsolin m utation ...................................................................................... 404gene cluster 105,142, 144,146, 233,262, 339,384,605,751,753, 827,986,1868, 1901,1915,1924,1925,1953,1994,2010,2098,2124genetic d isease .................................................... 1888,1968,2036,2054,2110genitalia ........................... „................................. ............ ........431.1897,2070G ENO GRAPH ICS................................................................................. 1837Genome Data B ase ............................._................................................. 1833genome walking ............... 2151Genomic Database o f the M ouse ........................................................ 1837genomic w alk ing ..... ........_......... ............................... ................. ........2151germ line ..........................................261,464,829,1861,1886,2005,2M8. 2107

ferrochelatase defic iency .................................................................... 2014fetal a o rta ......... .........................................................................................337fetal haem oglobin ......................... ................................................ 339,1924fetal liv e r ..........................................................................................1863,1944fetal liverF or..... ......................_...................................... ......................1968fibril p ro te in ...._ ................................................................................. 142,404fibrillin .......... „......................................................................... .........626,988

foveal hypoplasia...........................................................................2058,2065FoxB ase.... .................................................. .1836fragile site .143,144.1872,1889.1999,2054,2062,2065.2067,2071.2076,2079. 2082,2102Fram eM aker.................................. 1837framework marker ..... ............................................................829,1097.1193frequent sleep ing .............. 1919frontal cortex .................................................... ........... „..................231,2039fucosidase.......... ...............................................................................144,1870fucosidase pseudogen e...................................................................144,1870fucosidosis.................................................................................................1870fundal depigm entation.......................................................................... 2065

galactosyl transferase..............................................................................555galactosyltransférase................................................................................403gap junction p ro te in ..........................................................................103,261gastric intrinsic factor..................................................................... 461,1963G B A S E .................... 1837G D B ........................................................................................................... 1833GDB O n line..............................................................................................1835

glial tum o r___g lio m a____g lo b in _____

-............................ ..................................... -.1977.2007............................................................... 987,2002,2136

glucocorticoid recep tor..............................glucose phosphate isom erase...................

..... —..................................1894

.................................. 2124,2125glucose transporter..................................... ................................... 261,1878glutamic ac id ............................................... ...........................................1877glutamic oxaloacetic transam inase....................................................1996glycerol k in a se ..............................................................................2081,2087glycine recep to r.......................................... ...........................................2083glycoprotein m a trix ...............................................................................1927gonadal dysgenesis.........................................................................967, 2093g o rilla ............................................................ .......1868, 2028,2038,2095, 2127granu locyte .................................................. ...........................103,1855, 1974grey m a tte r........................................................................ 231growth factor 143,145,231,232,233,261.296,337. 338,460,555,580.625.752, 827, 829, 1153. 1862. 1869,1870,1872, 1876. 1890,1900,1905. 1909, 1921, 1948, 1970,1977,2013.2027,2051.2131.2138growth factor receptor................................... 232,580,625, 1890,1905,2138growth h o rm o n e .................................... 1897,2031g u an in e ......- ..............................105,295,338,556,828,1891,1922,1933,1950

Hhaem ophilia........................................haemopoictic regula tor....................

.................................................... 2087

.................................................... 2083hair cu ticle .......................................... ...................................................... 461halothane............................................. .................. 753.2016,2018,2023,2025hamster background......................... ................ 1873, 1919,1958,2070, 2088hamster c e ll ........................................ .................................... 261,1932,1961haptocorrin ......................................... .................................................... 1963haptoglobin ... ............. .....................1999

.................................................... 1999head circum ference.......................... .................................................... 1982head s ize .............................................. .................................................... 2086hearing lo s s ........................................ ........................................... 1857,1894

....144,1872,2010,2040heart m u rm u r..................................... .................................................... 1995heat inactivation assay .... ...................................................... 462heat sh o ck ..................................................................299,556,626,1912.1978heat shock p ro te in ............................. ......................299. 556,626,1912, 1978heel co rd .............................................. .................................................... 1903hematopoietic growth fa c to r .......... ...................................................... 752hematopoietic o r ig in .......................................................................751,1928hem ochrom atosis......................................................................................299hem oglobin...............................................................................-.6,1997,2135hemopoietic cell k in a se .......................................................... 785hepatic porph yria ................................ .................................- .... .........404hepatoblastom a......................................................... .......... ......... 786,1974hepatocellular carcinom a.....................................232.233, 1885,2106,2138

2176 Index

hepatocyte growth fac to r ...................................................................... 1921hepatom a................ ..............................„„............................„....170,233,2046hepatom egaly........ ..... 2066hereditary am yloidosis....................... 404hereditary breast tumour ...„................... 1853hereditary deafness........ ..... 2134hereditary spherocytosis ................... ........................................ 383.60Shereditary tumor syndrom e.................. ..... .......... .................... 829,1080heterochrom atin.......................... ...„......... 1852.1891.1985.1989,2097.2132HGM11 ab strac ts ................ 1836H G M P-R C ............................................................ 1836histocompatibility an tigen ..................... 2094histocompatibility co m p lex ...............................989.1907.1916.2113.2126homeobox g e n e ................... .......... ....................................... 431.1949.1952homeoprotein family .......... .......................................................... 431.1949homologous lo c u s ..... .....................................................................236.2065homologous mouse lo c u s ....... ............................................................. 1997hormone recep to r.......... ..................................... .........................1866.1905Human Gene M apping Resource C en tre .......................................... 1836human protooncogene........ .................... 1986humoral immunodeficiency d isease ....... .......................................... 2092hunter syndrom e........ ............................................................................ 2064Huntingtons d isease ...... .....................................987, 1153,1890,1891.2110hydrocephalus............................................ 1098,2073,2079. 2090, 2101. 2116hypercholesterolem ia............................................................................ 2066hyperkalemic periodic para lysis ..........................................688,986.1098hyperkeratosis............. 2078hyperkinesis.................. 2010hyperoxaluria................ 986hyperreflexia............. 2071hypersensitive............................................................. 1850hypertension................. 431h y p ertex t............ 1838hyperthermia ....753. 1853, 2016.2017.2018, 2020, 2023. 2025,2102,2110. 2130hypertonia.................................................................... ............ 800,988,2035hypertriglyceridem ia......... ....................................................................2066hypervariability.............................................................................. 2141,2143hypocalcaemia ........................................................................................ 2087hypogonadism .........................................................................................1097hypohidrotic ectodermal dysp lasia ...................................2091,2105,2119hypo insulin aem ia ...................................................................................1878hypom elanosis........................................................................................2058hypoparathyroidism ........................................................................460,2087hypophosphataemic ricke ts ................................................ 2081,2083.2117hypoxanthine phosphoribosyl......................... 2129hypoxic .................. 2122

IIBM P S /2 .................... ....................................................— ............. ......1834EBM -PC_________ __- .................................... ............................... ......1836ich thyosis...................................................................... 2099.2112,2113. 2135IC N ET .............. 1834ID IO .................................... 1837id iogram ......... ................................................ .......................645,1836, 1870idiopathic hypoparathyroidism .............................................................460iduronohydrolase ....... 231immunodeficiency d isea se .................................................2071,2077,2092immunoglobulin lo c u s ............................................. 626inbred fam ily ........................................................................ 1962,2099.2114index marker ....... 1193index marker criteria........... „....1124informative fam ily ........ ......... „....1855

J

informative m icrosatellite .................. 2104informative recombinant chrom osom es............................... 1881informative tu m o u r............................................................... 1861insulin ........ ................................................................. 103.143,429,625,1963insulin rece p to r................................................................................ 429,625insulinom a._.............................................................................................. 464insu litis .....................................................................................................2138integration s i te .............................................231,232.382,556,686,688,1850integrin .............................................................................. 143, 688,1869,2006integrin fam ily ................................................................................ 1869interleukin ................................................262.786,829.1873,1911.2027,2108inlerlocus recom bination ...............................................................235,1888Internet ............................... 1834interspecific backcross.....................1943,2061,2073,2074,2136.2137.2138interstitial deletion ....171,298,1861,1895,1899,1901,1918,1925,1926,1927, 2010,2037,2090intestinal m ucin ................ ..............................................................461,1920intragenic com plem entation.................................................................1960intrauterine d em ise .................................................................................2037intrinsic fa c to r ................................................................461,462,1963,1974ipsilateral ovotestis.................................................................................2070iris development ...„.......................... 1973iris translucency...................................................................................... 2058iron binding p ro te in ...................................................................... 801irradiation h y b rid ...........................................................................1937,2057isodicentric................................. 2059,2095isodicentric chrom osom e......................................................................2059iso zy m e....... ................................................................................... 1153

K

JA N E T .......................................................................................................1834JH G M L .....................................................................................................1838Joint Academic N e tw o rk ...................................................................... 1834joint hyp erlax ity ..................................................................................... 2040junction b reakpoin t....................................................................... 2067juvenile o n se t...................................... 2068juxtacentromeric re g io n ........................................................................2076

kallikre in .................................................................. ...................... 232,2026karyotype ana ly sis .................................................. _.. 1851,1957,2014,2147karyotypic evolu tion ............................................................1053,2125,2131karyotypic evolutionStudies.................................................................2131keratin ..........................................................461,555.687, 688.988. 1986,2007keratin g e n e ............................................................... „.461,687keratosis follicularis sp inulosa......................... 988,1098,2078.2102 2116K erm it.................... „....1834kidney adenom a........................ 2104kidney d ise a se ........................................................................ 990,1153,2000kidney tu m o r........ .................................................................................. 2104kin inogen .......................................... ...................... ..........................„.... 170kininogen subfam ily ........................................................................... „...170k rin g le ............................................................ 2148

Llactalbumin.................lac tation ........................lactic acidosis...............lactone ox id ase ............lactoperoxydase..........lamellar c a ta ra c t.........lamellar cataract locuslamellar ichthyosis.....lam in in ..........................

...................... 2131

............................ 2125,2131

..................... .......986,2120

..................... 382

.....................................2127

..................................... 1868

..................................... 1868

............................... ............ 2112171,337,555,988.1922 2100

Index 2177

laminin recep to r................................................................................. 171,555late onset deafness ..................................................................................2134lattice com eal dystrophy........................................................................ 404LDDB ............. ...................................................—______________ __1837leiom yom a........................................................................................ 606,1979leucine z ip p er.......... ..............................................643,1989,1999,2000.2003leukaemia 142,382,405,555,751,785,1866,1886,1943,1957.1961,1966,1969, 1992,2005.2019,2106,2131leukaemia oncogene........ ...................................... - .............................1943leukemia .... 104, 339.461,463,464.468.470,606,625,643,686, 801,1870,1888. 1915,1926,1928,1931,1949,1980,1989,1992.1999,2005,2019,2027,2039.2042, 2043,2051,2106,2107leukemia breakpoint............................ 461leukem ogenesis................... ....................................................... 1980,2039leukosialin .................. 643library construction ................................................................................2156light strand ........................................................ 2120,2121limb deform ity ..................................................................................625,990linkage analysis ..105,108,143,144,145,297,298.339.384.430.431.460.461, 462.555,580,581,606,645,686,740,751,756.785,800,829,1099,1125.1853.1864, 1865,1869, 1870,1874, 1875, 1879, 1882, 1885,1888,1889,1890,1891,1893, 1894,1895.1896.1898.1899.1900.1901.1902.1903.1908.1909.1911.1912.1913.1914, 1916,1921,1924,1925,1934,1939,1940,1941,1945,1948.1949.1954,1955,1957, 1958,1959, 1960,1961,1962, 1967.1971,1976,1978,1983,1984,1986.1987,1989. 1992,1993,1995,1999, 2004,2005, 2008,2009,2010.2016,2017,2018,2022, 2024, 2025,2031,2037,2038,2039,2040,2044,2047,2054,2057,2058,2059.2063, 2064, 2065.2066, 2068,2071, 2072,2077. 2078,2080.2082.2084,2086.2087,2089,2090, 2091,2092,2098,2099, 2103,2104,2106,2109,2111,2112,2115,2116,2117,2118, 2123,2124,2125,2132, 2135,2141.2155linkage disequilibrium 231,235.262.405,1856,1865,1881,1889,1890,1891,1902.1914, 1918.1936, 1938,1939, 1944.2017,2018.2019,2022.2085.2103. 2117, 2118

M

lysophospho lipase ............................................................. .......... 1945,2021lysosomal phosphodiesterase.............................................. 462

[m acroorchidism .............. 2090m acrophage...... ......................... „.................................. 382,643.1997.2134macrophage scavenger recep to r.................................. 382magnetic bead separation .................. 1972major histocompatibility com plex ............... 989,1907,2113,2126Maker M arkup L anguage.................................. 1836m ale pseudoherm aphroditism .......... ....................................... ....986,1897malignant fibrous histiocytom a...................................... ............ 556,1979malignant hyperpyrexia............................... 2022malignant hyperthermia .753.1853.2016.2017,2018,2020,2023.2102,2110,2130,2134malignant hyperthermia lo cu s .......................... 2017,2134malignant lym phom a................................... 1928malignant m elanom a................................. 2006malignant tu m o r .......................... 1980manic depression......... .......... 460manic depressive illness................................. 460,1973,2087,2104map assem bly ................................................................... ..... 644,2002.2145map editor ..... ........... 2145Map M anager........... ..................................... 1833mapping consortium ......................... 556mapping database................................................ „2145M arians syndrome — ................................... 988m arijuana.......................................... 295marker chrom osom e........................ ................... ......1994,2095,2096,2156marker chrom osom es.........................................................1994,2155,2156marsupial ........... 1127,2089,2125,2128,2129maximum likelihood..............................................................468,1975,1989M C D ................................................................................... ......................1837

linkage equilib rium ............ ...................................................................1944 Medical Research C o un c il........... ....................................................... 1835linkage exclusion................ .....................................................................235 299 686, 688,1098linked c lu ste r....................... ...................................................................2083 ......................428linking lib ra ry ...................... ..........................................................2051,2156 medullary thyroid carcinoma ... .......................................428.1947.1948lip ase ...................................... ... 143,383,403,460,1932,1945,1987,2009, 2025 m edulloblastom a............................ ....................................................... 2112lipid m etabolism ................. .................................................. 104,1945. 1987 ....................................................... 2058lipid transport....................... .................................................................... 104 meiotic m app ing ............................. ....................................................... 1878lipocortin ............................... ........................................................... 431,2113 melanoma c e l l ................................ .......................404,580,1909,1985,2022lipocortin fam ily ................. ...................................................................2113 .........................................................103lipofuscin .............................. ...................................................................1856 .............................................. 1862lipofuscinosis....................... .............. 987,1856,1999,2098,2100,2111,2114 ............................................... 296lip o m a ................................... Mendelian inheritance .................. .............................................. 1897,1958lipoprotein recep to r............ ...................................................................1977 m eningiom a..................................... ................................................233. 2044liver cancer___________ __.... ............. .................................................1886 mental illn e ss .................................. .............................................. 1966,1972L N D ......................................... ....................................... ................. ......1837location da tabase ...................................... 1100,1851,1948,2037.2060,2111locus ...................................................... ................................ 2008,2017, 2134lod score 105,143,144,299,404,405,460,606,686.751,753. 800.987,988.1097, 1099,1853, 1854,1857,1868,1870, 1871,1875,1894,1895,1901,1903,1910,1911, 1914,1935.1936,1939,1946,1955,1957,1962,1967,1970.1974.1975,1978,1983, 1991,1992,1993,1996, 2001,2008, 2018,2020.2022, 2023.2028,2037.2040, 2065, 2066,2068,2072, 2073, 2084,2086.2090, 2091. 2101, 2114.2115.2117, 212S lung can cer........... ............................... - ..... - .................. ................171.1882lung carc inom a..........................lym phadenopaihy......................

------- ___ ..___ _____ 2085............................1931

lym phoblast................................ .....................606,1980lymphocyte ac tivation .............. ...... 143,555.688.2113lymphocyte activation g e n e .... ...................... 555,688lymphocytic leukemia ....„.............................................................1888,2027lymphoid neop lasia .......... ............. ............ ......................................„....2%

mental retardation ...144,233,800,987,988.989,1098,1153,1856,1889,1895,1899.1930,1940,1941.1956,1970.1994,1995,2002,2010,2035,2037,2040,2054, 2055,2062. 2063, 2064, 2069, 2071,2073.2079,2085,2086, 2090. 2091.2099, 2101. 2104,2112,2156mental subnorm ality .......... ............................................. 1995meiacentric chrom osom e................................... ................................. 2032metacentric chrom osom es.............................................. ........... 2124,2133metaphase chrom osome ....................... ........... 1877,1940,1950,2001,2149metaphase chrom osomes 337,338,429,431,461,751,1851,1852,1856,1857, 1861,1864,1887,1891.1920,1924,1926,1928,1940,1942,1943,1944,1945,1950, 1978,1996.2009,2011,2014,2031,2038,2042,2046,2096,2124,2125,2128,2129, 2154méthylation pattern ......................... 2033methylguanine m ethyltransferase___ ________ 429methyltransferase g e n e _______ 1950

2178 Index

microdissection 143,383,462.464,801.829,1871.1896,1929,1930,1969,1974, 1992,2036,2047,2062,2067.2129,2142microdissection lib ra ry ..............................829,18%, 1929,1969,1974,2036m icrosatellite....261,262,403,405,432, 557, 829,1125,1864,1865,1874,1887,1890,1891,18%. 1900,1902,1903,1935,1971.1989,1992.1993,1998.2000, 2016, 2017,2077, 2104,2114, 2116.2123, 2125, 2126,2129,2134,2137,2140,2141, 2143, 2147,2153microsatellite locus........................................................................2000,2016microsatellite rep ea t .1874,1887,1900,1903,1971,2077,2116,2143Microsoft W indow s........................................................... ..........- ....... 1838milk p ro te in ............................................................................................. 2131milk whey p ro te in ......................................... - .................. ....................2125mink chrom osom e..........................................„..................................... 1917mink chrom osom es......................................... —-------- ---------------- 1917mitochondrial d isease ............„..............................................................2120mitochondrial encephalom yopathy..............................................— 2120mitochondrial m yopathy ................................................ 2120mitochondrial p roliferation......................................_......................... 2120mitochondrial transcription........................ 430,462,1103,1924,1951,1%7mitochondrial transm ission...... ...........................................................2121m itochondrion................... 1103m itogen .....................................................2%, 337,751,1909,1911,1921,2138m itogen s tim ulation ............................... .......................... —................. 751mitogenic poten tial.................................................................................1909mitral valve p ro lap se ....... - ................................................................... 1872mixed deafness...............„..„..................................... 2084M M L ......................... 1836monoamine oxidase ...........................m on olrem e...........................................

.............................................. „...2059.................................2089,2128, 2131

m osaicism ............................................. ......2002, 2039. 2063,2070,2148. 2149motor neurone d ise a se ...................... .................................................. 2100Mouse Cytogenetic D a tabase .......... .................................................. 1837mouse pseudogene.............................. .................................................. 2136mouse splotch g e n e ........................................................................... 143mouse t com plex.......................................................................... 1907M S -D O S ............................................................ 1837m ucopolysaccharidosis...............multiallelic lo c u s ..........................

............................... 231,1153,2055,2066

........................................................ 2090multifunctional p ro te in ............... .......................................................... 382multigene d e le tio n ....................... ........................................................ 1988multigene fa m ily .......................... ........ 142,338,431,1951.2025.2047.2138multigene thym osin...................... .......................................................... 232multilocus linkage analysis................................. 1908multiple endocrine neoplasia „428,1947,1949,1954,1959,1960.1%3.1970multiple m ye lom a................................................................1915,1989,2107murine 103,142,143,145,382,429,556,643,739,751,752,786,1888,1907,1908, 1917,1949,2007.2008,2131,2135,2136murine ch rom osom e........................................142,143,145,429,2135,2136murine chrom osom es............. 2007murine genome ......................................... 2135murine leukemia v iru s .......................................................................... 2135murine recep to r.........................................................................................382mus m uscu lu s ................................................................................. 2053muscle b io p sy ......................... ......................................................2018,2120muscle d iso rder.............................................................................. 2018,2059muscle fibril p ro te in .................................................................... 142muscle m etabolism ....... ...............................................................2016,2018muscle rig id ity ............. 2016muscular dystrophy 261,299,625,626,987.1097,1098,1153,1851,1887,1889, 1891,1903,1907,1908,1991,1992, 1996,2021, 2069, 2080,2087. 2088, 2089muscular hypotonia................................................................................2040musculoaponeurotic fibrosarcom a..............................................643,2003

N

musculoaponeurotic fibrosarcoma v iru s ................. .......... ......643,2003m y e lin ................ ..............................myeloblastosis v iru s ..........................myelocytomatosis o ncogene...........myelodysplastic syndrom e...............m y e lo m a..........................................myocarditis predisposing locus.......myoclonic dy sto n ia ........................myoclonic ep ilep sy ........................myoclonus epilepsy ....................... .myopathy 105,236,299,986,987,1098,1858,2020,2022,2053,2067,2080,2120

.............. 688,1861,1983,2004___________________ 1928

______________171,1878.1926........... ......1911,1915,1989,2107

________ ___________ 606___________________ 405...................„...987,1913,2120_______________ 800,2037

myosin neavy c n a in ............myotonic d ystrophy ............myotonic dystrophy locus ..

................................ 643, 687, 1862, 211/2, 2103

... 1153,2018.2019,2022,2025,2026,2104,2116

......................................2018,2019.2022.2026

nail patella syndrom eN P.... .................................................................1943narco lepsy ............................. ........................................................1919.2104narcolepsy m uta tion ............ ........................................................1919,2104nasal b ridge........................... ........................................................2040,2071nasopharyngeal carcinom a. natriuretic fa c to r ..................

........... ................. ....................................2006

.................................................................2102natriuretic p ep tid e ............... ........................................................... 103, 261natriuretic peptide receptor ................................................................... 103NDB .......................................................... 1837nemaline m yopathy........................................................105.987,1098,1858neomycin resistance........................ 2152neonatal bowel obstruction..... ........................................... 1982neonatal cutis la x a ......................................................................... 988.1922neonatal ep ilepsy ......................................................................... 2031neoplasm ............................. ............................ .... .._............. ............„.....829nephritogenic urinary glycoprotein...................................... „....337nephroblastom a.................................................................................. 1969nephronophthisis................. 2109n e rv e .................................................................................. 460, 555,1862, 2068nerve growth fac to r......................... ................................ .....460,555,1862nervous tissue development ................................................... ....1920,1958Network Extensible Windowing S ystem ...................................... „.1837neural cell dysgenesis ..................... 144neural tube form ation ..................... 2077neuram inidase................................... 829neurinom a.......................................... ............................................2044,2050neuroacanthocytosis.............................................................. 2061,2111neuroblastom a........ ..............................................................1861,1889,2107neurodegeneralion................................................. .........1947neurodegerverative d ise a se ..........................................................1889,2122neurodegenerative d iso rd e r ....... ...................................... 1892,2024neuroectodermal tum our............................................. 233,1887,2048,2106neuroendocrine co nvertase................ 261neuroepitheliom a............................................. ..............................463,2051neurofibrom atosis.....................829,1080,1153,2011,2012,2044,2045,2104neurokin in .......................................... „...429neurological d e fe c t......................... 2067neuromuscular d isease ..._............... ............. ..................... .......1894.2064neuromuscular d iso rder.................. ............................ ...............105,1858neuronal d a m ag e .......................................... 1947neurotransm itter.......................103,261.262,429,461.1850,1870,1947,2061neurotransmitter recep to r.............................................................. 103neurotrophic fac to r........................................................................ 460neuro troph i n ............................ 555neutropenia.............................. 1931,2053n eu tro ph il.......................................................................... 461,1974,2113

Index 2179

O

neutrophil secondary g ranu le.......neutrophilic granu locyte ...............

......................................................1974

...................................................... 1855N e W S ......... 1 ............ 1.....................nick translation ................................

...................................................... 1837

........................... 1856,1900,1978, 2014nicotinic acetylcholine recep to r...................................................625, 1994

, 2053, 2054. 2056, 2058,2060,2070, 2075night v is io n ....................................... ...................................................... 2056nonisotopic m ethod ........................ ...................................................... 2002

........................................................339norepinephrine................................. ...................................................... 2048

ocular alb in ism ................................ ....................................1098,2058,2081ocular im pairm ent........................... ...................................................... 2109oculocutaneous alb in ism ............... .................................................233,989oculocutaneous telangiectasia..... ...................................................... 1962

...................................................... 2151

......................................................1947o n co sen e .................................................................................................. 1989oncogene p ro b e ................................ ........................................................468Open W indow s................................. ......................................................1837ophthalm oplegia.............................. ......................................................2120opric c u p ............................................optic neuropathy..............................

.......................................................1973......................................986,2086,2120

opric neuroretinopathy...................ordering clones ............. ..................ornithine decarboxylase................

............................................. 2100.2121

...............................................144,1865omithorhynchus anatinus............... ...................................................... 2131orofacial c le f t ................................... ...............................................297,1098orofacial cleft lo cu s ......................... ........................................................297osteoarthritis..................................... ........................................................556osteoclast activ ity ............................osteogenesis im perfecta ................o steonectin ........................................osteosarcom a....................................otopalatodigital syndrom e.............

...................................................... 1984

........................................................ 987

............................................. 1894,1895.......................................................1984...................................................... 1098

oxidative............................................oxidative decarboxylation.............

.......................................................1103........................................................103

oxidative m etabolism ..................... ...................................................... 1863P

Pagets d isease ...... .................................................................................. 1984pancreas___ ................_............................... ..................................1964,1986pancreatic can ce r....... „........................................................................... 1974pancreatic co lip ase ...................................................................................295pancreatic is le t....... ......................................................................... 464,1964pancytopenia........................... 1931papillom avirus..... ...................................................... 382paracentric inversion polym orphism ................................................. 2096parakeratosis....................................................................................2054,2055parathyroid adenom atosis.......................................................................461parathyroid ho rm o n e ...............................................................................461parietal c e ll ................................................................................................1963partial m onosom y............................................................................800,2037partial trisom y......................................................... 800,802,1917,2035,2040parvalbum in.............................................................828, 829,2045,2046, 2135peptide recep to r...............................................................103,143,1871,2024periodontitis....... .......... 2024peripheral neuroepitheliom a......................................................... 463,2051peripheral neuropathy ......................................................... 2009,2010,2120periton itis ..................................................................................................2113pernicious an em ia ...................................................................................1963phaeochrom ocytom a.............................................................................. 1879

phosphoribosyl transferase ................................................................. 1896phosphorylase k in a se ........................................................... 986,2001,2066phosphotyrosyl phosphatase...............................................................786physical map 231,232,235,296,298,343,406.432,466,468,625,687.689,751. 753,802,968,1873,1878,1882,1890,1894,1898,1900,1905,1907,1913,1916,1919, 1926,1950,1956,1959,1960,1964,1965.1968,1971.1974.1987.1998,2000,2002, 2017,2021,2037,2041,2049.2051,2059,2060,2067,2069,2071,2074,2076,2077, 2078,2085,2094,2126,2142,2152pig 625,753,1125,1863,1866.1874,1928,1983,1987,2012,2016,2023,2026,2097, 2123.2124,2125,2126,2129,2130,2132pig chrom osom e...............................1866,1983,1987,2023.2124,2129.2130pigmentary d istu rbance.................................... ................... „..............1869pigmentation m utation ......................................................... „..2138placenta pro tein ........................................................................ „.1935placental alkaline phosphatase....................................................1874,2143placental ferredoxin ......................................... 462placental m alfunction ........................................................... 1851plakoglobin .......................................... 338plasma c e l l ......................................................................296,1915,1989.2107plasma cholestero l................. 1945platelet ..................................... ................... 232,233,431, 829,986,1952,2131p la typ u s ........................................................... 2089,2128,2131pleiotropic e f fe c t .................................................................................... 2055polyadenylation s ig n a l...........................................................................1949polyadenylation s i te ................................. ....................................... — 1978polycystic kidney disease 144,990.1098,1153,1997,2000,2001.2002,2109. 2110,2116,2117,2136,2140polycystic kidney disease a n ................................................................ 2110polym orphic................ 300polymorphic a lle le ................. 1987polymorphic dinucleotide..... ..................... 298,3W, 1958,2084,2085,2117polymorphic m a rk e r .............. ....468,785, 1080,1870,1956,1993,2053,2114polymorphic m icrosatellite.... 262,1903,1971, 2000,2017,2129,2134,2143polymorphic p ro b e ........................................................................556,2064polymorphic reg io n ........................................... »........... - ....339,1966,2150polymorphic re p e a t ........................................... ............................ 233,1894polymorphic sa te llite ............................................................................. 1867polymorphic sequence...................................... 1962polymorphic s e t ........................................................................................432polymorphic s i te ......................................................................................1988polymorphic system ......... .......................... „............................... 1914,2017polymorphism analysis........................................................1962.2126,2141polynucleotide k inase ......................................................................... 1932polyposis coli _........................................... 1080,1895, 1899,1903,1904,1905polyserositis............................................................................................... 299porcine ... 1125,1987,2017,2018,2023,2097,2102,2123,2124,2125,2130,2131,2132,2134porcine alb u m in .................................................................................»„2125porcine apolipoprotein.......................................................................... 2124porcine ceruloplasm in........................................................................... 2124porcine ch rom osom e............................................................................. 2017porcine chrom osom es........................................................................... 2097porcine ryanodine recep to r.................................................................. 2023possum ............................................................................................. 2053.2129potassium ch an n e l.........................103,555,752,801, I860,1979.2021,2038premature ageing ................................................................ 2101premature d e a th ........................................................................... »....— 1856prenatal de tection.............................................................................740,2148prenatal determ inadon ...........................................................................2055prenatal diagnosis .1891,1895.1899,1997,2066,2068,2073,2080,2082,2086, 2090,2148prenatal identification.............................................................................1983

2180 Index

preproacrosin ............. ............. ........ ...................................................... 2045primitive neuroectodermal tum our...........................233,1887.2048,2106proacrosin ........................................ ............probe localisation .........................................

................................. ....... 2045

......................................... 1877probe lo ca tion ............................................... ......................................... 1883prochymosin pseudogene.......................... ........................................... 104programmed d e a th ....................................... ......................................... 1931progressive a ta x ia ........................................ ......................................... 1944progressive myoclonic ep ilepsy ............... .................................. 987, 2120p ro h ib itin ....................................................... .................................. 688, 2011p ro lac tin ......................................................... ......................................... 1897prometaphase ch rom osom es.................... ........................1856.1861,1877promoter re g io n ........................................... ................................ 1923. 2120D rom velocvtic leukem ia............................. ...........................625. 686 1992protein kinase 170,296,403.429,556,751.801.828,1850,1908,1916.1937,1952.2040.2049protein recep to r................................. 2038proteoglycan.................................................. ......... 103,142,1873,1976. 1977proton ch ann e l.............................................. ....................................643,990protoporphyrin.............................................. .................................. 739,2014oroviral eenom e........................................... ......................................... 2135pseudoautosomal 967, 968,989.1099,2038, 2074,2077,2083, 2088, 2095, 2096,2127pseudoautosomal bou ndary ....................... .............. 2038.2074,2077, 2088pseudoautosomal g e n e ............................... ......... ................................. 967pseudoautosomal reg ion .....967,968, 989, 1099, 2077, 2083,2088, 2096, 2127pseudoautosomal telomere ......................................... ........................967pseudogene „104,144,171,232,261,300,430,431,468,555,556,626,751,801, 827,828,829,1854,1865,1868,1870,1896,1897,1927,1928,1929,1942,1947,1978,2025.2032,2053.2059.2067,2135.2136pseudogene lo c i ................... 1929pseudoherm aphroditism ....... ..................................„.................... 986. 1897psychiatric diagnoses.......................................... 1972psychomotor re tardation ................................................................233,2037putative oncogene......... ................................................................... 430,461putrescine......... ..................................................... ............................. ....1865

Rrab b it....................................... ........................296.756. 1852,1869.1908, 1983radiation hybrid ..262,468, 802,1877,1893.1903,1904.1932.1951,1970,2077, 2080rat 171,295.337,405.429,461,556,801,1125,1152,1850,1863.1870.1873,1876, 1888,1891, 1892,1897,1909,1915, 1928,1931,1932 1934,1963,1968,1986.1994, 1997,2004,2005, 2007,2008,2009,2011.2034, 2045,2048,2128,2137,2138 rat brain ...........................................................405,461,1892,1915,1934, 2034rat cannabinoia recep tor.......rat ch rom osom e...................... ......................................................1870.2128rat ch rom osom es.................... ............................................................... 2128rat es terase................................ ............................................................... 1997rat g e n e ..................................... ...............................171,801,1968,2128, 2137rat hyb rid .................................. ............................................................... 2007receptor ................................ ...556 2016,2019 2020 2023 2102 2110 2130receptor d iversity ....................receptor gene 171,231.261,339.343,430.580,643,753,1855,1902, 1927,1949, 1960,2023,2038, 2083,2085,2086,2102,2116,2130,2142receptor lo cu s....... .......................................... 299,431,556,1915,2016,2110recessive d isease .............. ..................144. 1856. 1899, 1965,1988,2064. 2113recessive disorder 299,686,785,800,1857,1897,1962,1983,1996,2030,2037, 2087,2088.2091,2101,2104recessive m u ta tio n ........... 1964recessive oncogene.................... 1971reciprocal translocation .................. 643,1864,2002,2051,2055,2104

recombination n o tsp o t.....recombination in tensity ....

..................................................................... 235....1099

recombination p ro cess ..... ....................................................................1867recombination r a te ............. ............................235,459,467,1099 2078,2141recombinational hotspo t......................................................................... 299reduced penetrance............ ............404reduced recom bination..... ....................................................................1950reference fam ily ................. ................................................... 432,2028,2129reference family p a n e l...... ..................................................................... 432reference m arker................ 146,235,298,463,470,606,801,1190,1193,2055regulatory m echanism ...... ....................................................................2013relational d a tab ase ............. ....................................................................1833rem yelination...................... ................................................................... 1862renal adeno m a.................... ................................................................... 2104renal adysplasia.................. ................................................................... 1893renal ap lasia ........................ ..................................................................... 625renal cancer......................... ................................................................... 1882renal d isease ....................... ....................................................................2110renal failure......................... ....................................................................2109renal m etabolism ............... ................................................................... 2002re n in ...................................... ................................................................... 1856

............................................................ 404, 2032repair en zy m e..................... ................................................... 429.1950.1957repair g en e ........................... .............................................................. 144,429reserved sym bo l................. .........................................................................5restriction an alyses ............ ................................................................... 2069restriction analysis............. ................................................. 1977,2017,2091restriction d ig e s t.................................................................................... 1942restriction map ,...339, 345, 582, 1882, 1919,1929,1939,1947,1968,2022,2036,2043,2056,2076, 2082, 2091,2148,2155restriction mapping .........647,1870.1926, 2031, 2036, 2058,2060,2074, 2076restriction p a tte rn ............... ....................................................582,1888, 2042retinal degeneration........... ......................................................296.990,2109retinal d e tachm ent............. ................................................................... 2086retinal developm ent........... ................................................................... 1989retinal dysp lasia ................. ................................................................... 2086retinal pigment epithelium ...................................................................1899retinoblastom a.................... .......................................................... 1080,1984retinoic a c id ......................... .....................................555,625, 686,1992,2005retinoic acid recep tor........ ............................................625.686,1992,2005retinopathy ................................................................................................................2120retinoschisis......................... ................................................................... 2078re tro v ira l.............................. .......................................... 643.1861,2135,2143retroviral insertion ............. ..................................................................... 643reverse genetics...................................................................................... 2075reverse prim er......................................................................................... 2023reverse transcrip tase............................................................. 828,2046,2077reverse transcrip tion ............................................................................... 337reversible cleavag e............ ................................................................... 1880rhabdom yosarcom a........... ...............556, 1873, 1968,1969.1974,1977,2141rhabdomyosarcoma c e l l ... .......................................................... 1977,2141rhesus m onkey........................................................................................ 2126rhodopsin ........................................................170. 383, 1875,1877,1878, 1881rhodopsin g e n e ..................................................... 170. 1875,1877,1878, 1881rhodopsin lo cu s ...................................................................................... 1875rhodopsin po ly peptide...... ................................................................... 1881rhombotin g e n e ...................................................................................... 1969rhombotin o ncogene......................................................................556, 1980rick e ts .................................... .......................................... 556,2081,2083,2117ring ch rom osom e............... ................................................... 233,1988,2037

Index 2181

R L D B .............................................. .......................1837rod photoreceptor......................... ........................ 232

...................... 1994rodent sp ec ie s ................................ ............. 1124,212SR S 232 ..*............................................ ...................... 1834ryanod ine .753.1880.2016,2018,2019.2020,2022.2023.2025ryanodine receptor ..753.1880,2016,2018,2019.2020,2022,2023,2025,2102, 2110.2130ryanodine receptor g e n e .753,2016,2019,2020,2023,2102,2130ryanodine receptor lo cu s ...................... ...................................... 2016,2110

sarcoma breakpoin t..................„.................................. 829,2046.2047.2106sarcoma oncogene........................................................................ 2135sarcoma oncogenesis ............................................................................. 1979sarcoma t ........................... ................................. „..... ............. ................1958sarcoplasmic reticu lum .......................................... 751,2017.2018,2023saturation m app ing .............................„................... ........... _...............1896schizophrenia....... „............. .................262, 460. 1893, 1900,1966.1972,2116schizophrenia d iso rder............................................... 262schizophreniaschizoaffective...............................................................1966secondary am enorrhea...........................................................................1995segregation an a ly sis ............................. 582,1911,1982,1997,2095segregation p a tte rn ......................................................... 752,828,1097,1963scm enogelin_____„__ ____________„_______________________ 6.786seminal f lu id _________________ 1931sequence hom ology 231,232,295,403,625.626,1857,1861,1912,1924.1929, 1931,1994,1995,2008,2038sequence iden tity .._................................................................ 739.1997,2014sequence polym orphism ........................................................................1962sequence sim ilarity ........................................................................1868.2013sequence va ria tio n ........................................ 1125.2080serine esterase ...... .... ............................................. 144,643,1997,2001,2134serine protease ...............„........ ................... 232,605,643,1921.2026serine protease fam ily ............... „..1921serotonin.................. ..................................................233,262,580,1902,2049serotonin m etabolism ..............................................................................233serotonin production ................................................ 233serotonin rece p to r ............................. ..................... .............262,580,1902serum potassium ________ 686severe combined im m unodeficiency...2068,2082.2091,2117sex chrom osom e........................................1125,2076, 2088.2125,2131,2148sex chrom osom es...................... 989,2076,2088,2127,2128,2129,2131,2149sex determ ination......................... ..................................................967,2155sex determ inationTdy................................................. 2093sex difference______ i960sex rev e rsa l..................... 2093sh eep ___________________________ __1124,1125,1983,1985,2124,2127shoulder g ird le .......................... 1903sialophorin.................. 643sialophorin gene........................................................... 643sigmoid c o lo n ........................................................................................ 1982signal de tec tio n ................................ „....1856signal in tensity ......................................................................1983,2039.2080signal p rotein ......... .................. 404signal transduction..................... .................................... 295,785, i860,2013simian sarcom a............... ........... .......... ...................................... 829,2135simian sarcoma oncogene......................................... ................._...... 2135single chromosome w orkshops........................................................... 1836single sperm ..................................................................................... 1966sinotubular ju n c tio n ......................... 2102

skeletal de form ation .......... ..................................................................2055skeletal m yopathy ........................................................ „2053skin r a s h .............................. .......... ............... ............ ........................... 2115slow tropon in ...................................................................... 2025,2118slow tw itch ......................... .............................. ....................... .............556sodium ch an ne l........................................... 144,337,686,688, 801,986,2034sodium reabsorp tion .......... ..... 337sorted chromosome .582,1857,1873,1877,1905,1926,1970,2019,2038,2124 sorted chromosomes ..7.103,170,468,740,751,1856,1898,1957,2070,2126, 2147,2151southern b lo t............... 1127,2051SparcS tation________ 1834spastic a tax ia _______ 1944spastic g a it................................ 2071spastic paraparesis.............. 2090spastic paraplegia......................................„............... 1944.2071,2101,2116spatial reso lu tion ....... ............ 1983sp ec tr in ....................... ............ ......................................... ..............403,1943spectrin actin com plex ................... 403speech d e la y ............................- ............................... ............................ 2010sperm recep to r......................... .......... ........................................ „..338,1927sperm receptor fu nc tio n ........ ........... 1927sperm atogenesis..................................................... 142,460.1963.2093,2094spermatogenesis gcncSpy............................ „...2093sperm atozoa.......................................................................... ........„„382,1931sperm atozoon........................... 1927sperm idine............................................ .................... ..............103,1865,1883spermidine syn thase............................................ ........... ....103,1865,1883sperm ine.................................................................... „..__ _________ 1865spermine syn thase........................ _______ .„„..................... ..... .......... 1865spherocytosis................................. ..... ....................................383,605,1996sphingom yelin.........................................„..--------------------------------- 462sphingom yelinase.................. 431,460,462,687spike w ave............................................. 1910spinal cerebellar a tax ia .................... 1916spinal c o rd .................................................................. ......143,231,1894,1899spinal cord p a re s is__________ 143spinal muscular atrophy 1887,1893.1894,1895,1897,1899,1902,1906,2101. 2140spinocerebellar a tax ia ....................... 297,1912,1913,1915,1918,2100,2114splice ju n c tio n ......................... 2150splice s i t e ................................................................. ........404,460,1921,2150splicing p reference.......................... 1865split hand ..... ....................................................... 919split handfoo t......................................... ....................................„„..338,989splotch mouse ______ 144spontaneous expression _____ 144squamous ep itheliom a..........................................403,988,1939,2099,2113square forehead ...„.................................. 2071s ten o sis ....................................... 1098.2073,2079,2102,2117steroid su lphatase......................... .................... ....................._______ 2127steroid sulphataseSTS....................................................... 2127strom elysin............................ ............ ..................... 461,643,1959,1965,2123subsarcolemmal reg io n ............................... 2120subtelomeric reg io n ......................... ............. ...... ............ „.1889,1891,1929subtraction hybrid ization ............... 2025sudden death ...................................... ............................ 460,986,1918.20*8sulfalide storage d isease________ 431superoxide dismutase ........................................... ............... ......... 231,2037suppressor gene 1080,1153,1883,1884,1909,1917,1930,1966,1970,2005,2011suprachromosomal fam ily______________ 2132supravalvular aortic stenosis__ _______________ 2102,2117

2182 Index

surface an tig en ...............- .................................................144.404,470,1103surface m ark e r.......................................................................................... 68SS y b ase........ ..............................................................................................1834Sybase Hyper-DB lib ra ry ..................................................................... 1838synapsin ........................... 2061synaptobrevin ..... ......................„.............................................................. 688synaptotagm in.......................................................................................... 556synovial sarcom a.................................................................................... 2055syntenic 142, 143,145,146,264,382,429,465,739,1124,1125.1153,1863,1866, 1876,1897,1917,1949.1954,2009,2014,2015,2018,2124,2126,2127,2128,2131, 2132,2136,2138syntenic g ro u p ................................ 382,429,465,739,1866,1897,2015,2138syntenic reg io n ......................................... ................... 143,1153,2009,2136synteny ...264,296,464.580,644,1125.1127.1152,1851.1866,1999, 2052, 2061, 2123,2127,2128,2132synteny g ro u p .............................................................................. 1127,2052synthetase g e n e ...............................................................„....1864,1912, 1983synthetase lo c u s ........................................................................................296synthetase pscudogene.......................................................................... 1927

tachycard ia...............................................................................................2018tammar w a llab y ....... ...................................................2089,2111,2125,2128tandem rep ea t.................................................. ........231.234,432.1125,1854tapetochoroidal degeneration...............................................................2092tapetochoroidal dystrophy.................................................................... 2092TCP/EP.............................................................................................1834, 1838telangiectasia............................................................................................1956telomeric boundary................................................................................. 1965telomeric lo c u s .................................... 740telomeric marker .................................... 461telomeric region ..„........................................................... 802,988,1902,1970temporal lobe ep ilepsy .......................................................................... 2024tenascin .............................................................................................1935,2110testicular c a n ce r.......................................................................... 1966,2106testicular fem inization...................................................................1153,2059testicular tissu e ..................................... 2093testis 403,431,460,605,1873,1901,1908,1917,1938,2053,2070,2086,2093,2094testis determ ination.... ................................................................ 2093testis determining g e n e ................................. 2094tetranucleotide re p e a t.................................... 233,384,557,1853.1896.2077tetrap legia...................................................... 2104thalassem ia........................................................................................986,2110The Johns Hopkins U niversity.............................................. 1835thermal s tab ility ........... 1969threonine k in a se ................................throm bocytopenia.............................throm bospondin................................

.................................................... 2138

.................................................... 2071

.................................................... 1900thymidine k in a se ............................... .................................................... 2080thymoma cell l in e .............................. .................................................... 1911thym osin.............................................. ............................................... 232,462thyroglobulin...................................... .................................... 384,2126,2135thyroglobulin g e n e ............................ .................................................... 2126thyroid carc inom a............................. ....................................428.1947. 1948thyroid d isorder................................. ...................................................... 605thyroid g la n d ...................................... ...................................................... 605thyroid perox idase ............................ ....144, 1871thyrotropin syn thesis ........................ ...................................................... 170topographic d istribu tion .................. ...................................................... 785topoisomerase g e n e .......................... ......................... 1863,2032,2050,2138torsion dyston ia ................................. ....................404,405.1934, 1945, 2109torsional s tra in ........................................................................................ 2032

trabecular p a tte rn ............................................. 1984tracheobronchial m u c in .............................. 1879transcobalam in...................................................... .........................461.1974transcription........................................................................... .................1104transcription factor 261,295,338,430,462,556,605,688,786,1103,1906,1924, 1951.1967,1995,2120transcription regula tor............................................................................1969transcription u n i t ..............................................................................„....1866transcriptional activity ...„............................................... 606transferrin g e n e ......... ................... 2075transforming growth fac to r.........................143,145,231,1869,1872,1977transglutaminase fam ily .................... 1996translocation breakpoint 339,463,625,829,1886,1899,1940,1941,1958.1973, 2042, 2047,2048, 2050, 2051,2074, 2106

translocation chrom osom es................. ................ .....1857,1915.2045.2124translocation c lu ste r................................................ ..............................1970translocation coupling ................................................-___ ________ 2008transthyretin.............................................................. ............. 740,2013,2099transthyretin g en e .................................................... .......................740,2013tropom odulin............................................................. ...................... 403, 1944tropomodulin g en e .................................................. ...................... 403, 1944tropomyosin com ponen t........................................ ............................... 104tryptophan hydroxylase.......................................... ...................... 828,2049tryptophan m etabolism ........................................... ............................... 233trvntonhan o x v een ase ............................................................................ 233tuberous sclerosis ..405,407,463,556,987,1098,1153,1937,1940,1945,1958,1960,1961,1963,1965.1976,1977,2099,2100,2112 tuberous sclerosislocalization........................................... 1939,1961, 1987tuberous sclerosisT S C ............................................ ..............................1943tubular adenocarcinom a......................................... ..............................2104tumor necrosis fac to r............................................................ 103.1860,1980tumor necrosis facto rT N F...................................... .............................1912tumor predisposition g e n e ..................................................................... 463tumor rejection an tigen ........................................... ...................... 104, 1978

U

tumor suppressor 232,739,829,1080,1081,1153,1881,1883,1909,1916,1917, 1930,1966.1970.2011.2013tumor suppressor gene ... 1080,1153,1883, 1909, 1917, 1930,1966,1970,2011tumor suppressor lo cu s ......................................... ................232,829,1080tumour necrosis receptor ............. ......................... ......................._..„556tumour rejection an tigen ....................... 556tumour suppressor g e n e ...................................................... 1884tunnel v is io n ........................ 1881tyrosinase....... .................................................................................464,1943tyrosine dephosphorylation................................................... 2014tyrosine hydroxylase........................................................... i960,1973,2049tyrosine k in ase .........104,232, 261,430,580,625,1862, 1890,1948.1953.2138tyrosine kinase oncogene................................. .................... .....1862.1953

ubiquinone binding p ro tein ............................ 382ubiquitin .................................................. ......... ..............ubiquitin m on om er......................................................

..................231,1886

..................231,1886ubiquitin tu rn o v er........................................................ ......................... 1886University o f London Computer C en tre .................urogenital s in u s .............................................................

......................... 1834

.........................2070urogenital t r a c t .............................................................. ..................382, 1931uterine leiom yom a....................................................... ..................606,1979uvom orulin..................................................................... ...........................739

vibronectin recep to r.................................................... ......................... 1869v inculin ........................................................................... ......................— 431

Index 2183

viral integration....virtual blindness....v iru s ........................visual impairment visual lo s s ..............

.382,461.686.6*8,1850.1861, 1889

...............................................1881

.............................. ......... 643, 2003

............................................... 2109

......................................2086,2121

w a llab y ........... ........ 2089,2111,2125,2128X

xeroderma pigm entosum ................... 404X -W indow s................ 1838

Zzinc finger 170,171.296,338.339.382,404,429.556.643.686,687,688,752.828. 1877.1947,1953.1963.1964,1977.1979.1999,2009.2019,2029,2036, 2053.2129zinc finger do m ain ................„........................................................404,2053zinc m etabolism ..................................................................................... 2055zonular ca taract ..................................................................................2118