Compartment Syndrome-Deep Vein Thrombosis-Fat Embolism Syndrome
MUTASI - staff.unila.ac.idstaff.unila.ac.id/priyambodo/files/2016/05/10052016-Mutasi.pdf · Delesi...
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MUTASI Priyambodo, M.Sc. staff.unila.ac.id/priyambodo [email protected] Matakuliah Genetika (BIO612206) Jurusan Biologi Fakultas MIPA Universitas Lampung
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Transcript of MUTASI - staff.unila.ac.idstaff.unila.ac.id/priyambodo/files/2016/05/10052016-Mutasi.pdf · Delesi...
MUTASI Priyambodo, M.Sc.
staff.unila.ac.id/priyambodo
Matakuliah Genetika (BIO612206) Jurusan Biologi Fakultas MIPA Universitas Lampung
staff.unila.ac.id/priyambodo [email protected]
Dampak mutasi titik
wild-type silent nonsense missense
staff.unila.ac.id/priyambodo [email protected]
Mutasi titk
• Silent
• Missense
• Nonsense
• Frameshift
staff.unila.ac.id/priyambodo [email protected]
Mutasi translokasi
• Translokasi resiprokal
• Translokasi nonresiprokal (adisi-delesi)
staff.unila.ac.id/priyambodo [email protected]
A B D C E F H G
P Q S R T U W V
A B D C E F W V
P Q S R T U H G
A B D C E F H G
P Q S R T U W V
A B D C E F H G
P Q S R T U
W
V
Mutasi delesi
staff.unila.ac.id/priyambodo [email protected]
Cri-du-Chat Results
from Deletion of the
Terminus of
Chromosome 5
Delesi dan
Duplikasi
Cri-du-chat syndrome (Del 5p)
Wolf-Hirschhorn syndrome (Del 4p16)
Wiiliams-Bauren syndrome (Del 7q11.23)
Rubinstein-Taybi syndrome (Del 16p13.3)
Velocardiofacial syndrome (Del 22q11)
staff.unila.ac.id/priyambodo [email protected]
Variasi pada euploid
staff.unila.ac.id/priyambodo [email protected]
Tipe euploidi Jumlah genom Komplemen
kromosom
Diploid 2n AA BB CC
Triploid 3n AAA BBB CCC
Tetraploid 4n AAAA BBBB
CCCC
Pentaploid 5n AAAAA BBBBB
CCCCC
Berbagai kemungkinan variasi dalam aneuploidi
staff.unila.ac.id/priyambodo [email protected]
Tipe aneuploid Formula Komplemen
Kromosom
Disomi (normal) 2n (ABC) (ABC)
Monosomi 2n – 1 (ABC) (AB)
Nullisomi 2n – 2 (AB) (AB)
Trisomi 2n + 1 (ABC) (ABC) (C)
Dobel Trisomi 2n + 1 + 1 (ABC) (ABC) (B) (C)
staff.unila.ac.id/priyambodo [email protected]
