GENETIKA GOLONGAN DARAHDr. Sutyarso, M.BiomedBagian Ilmu BiomedikProgram Studi KedokteranUnila

DARAH, terdiri dari:* SEL-SEL DARAH:eritrosit, lekosit, trombosit* PLASMA, terdiri dari:- Zat makanan: glukosa, as. amino, as.lemak, lemak dan protein- Antibodi- Enzim- Hormon- Garam mineral- Air (pelarut)

PROTEIN PLASMA:ALBUMIN Plasma hipertonisGLOBULIN dari cairan tubuhPROTHROMBINE Pembeku- FIBRINOGEN an darahTHROMBOPLASTIN Gamma-globulin antibodi

KEASAMAN PLASMA* pH ARTERI = pH VENA 7,4* BUFFER PLASMA:HbOxy-Hb 60%Protein plasmaBikarbonatFosfat

GOLONGAN DARAH ABO

SKEMA TRANSFUSI DARAH

PEMBAGIAN GOLONGAN DARAH* BERDASARKAN RHESUS FACTOR RH - DI DLM ERYTHROCYT TDKADA FAKTOR RH RH +DI DLM ERYTHROCYT TERDAPAT FAKTOR RH

IBU BAPAK RH- RH+

ERYTHROBLASTOSIS FETALIS

II.BLOOD GROUPS AND SERUM PROTEINS For the most part, blood types and se- rum proteins are significant in provid- ing individuality to people Detectable differences and combina-tions of differences is provided by detecting antigens, antibodies, and their rections

Some blood groups such as ABO, have significance for cross-matching in preparation for transfutions Rh factors, have an inherent cross-matching problem Serum proteins, such as immunoglobu-lin, have great significance for general and specific immunity Phenotipic identification in blood com-ponent composition can be used to distinguish virtually anyone

1. ABO Blood Groups The symbols A, B, AB, and O are used to represent phenotypes All members of the allelic series may be symbolized with the letter A The allele responsible for A-type blood is symbolized by A Because this gene is dominant over the allele a for O, an A-type indivi-dual may be homozygous AA or heterozygous Aa

B-type is dependdent on the gene AB which is also dominant over the allele a AB-type has only one genotype AAB because A and AB are codominant O-type is represented by the homozy-gous recessive genotype, aa Subgroups have been discoveredwithin group A: A1, A2, dan A3; and within group B: AB1, AB2, and AB3

If all subgroups are controlled by separate alleles, a total of 7 alleles and 28 genotypes are represented in the ABO locus, as shown in Table 2:

Table 2 Phenotype, Alleles, and Corresponding Genotypes for Multiple Alleles for Human Blood Types

PhenotypeAllelesGenotypesA

B

AB

O A1, A2, A3

AB1, AB2, AB3

A1, A2, A3 AB1, AB2, AB3

aA1A1 , A1A2 , A1A3 , A2A2 , A2A3 , A3A3, A1a, A2a, A3aAB1AB1, AB1AB2, AB1AB3AB2AB2, AB2AB3, AB3AB3AB1a, AB2a, AB3 aA1AB1, A1AB2, A1AB3A2AB1, A2AB2, A2AB3A3AB1, A3AB2, A3AB3 aa

Multiple AllelesGolongan Darah

GENOTYPE GOLONGAN DARAHHOMOZYGOT DOMINAN: AA & BBHOMOZYGOT RESESIF: 00HETEROZYGOT: AO & BOCO-DOMINAN (MULTIPLE ALLELES): AB

Ayah heterozygot gol A menikah dengan ibu heterozygot gol B

Ibu gol AB menikah dengan ayah gol B heterozygot

2. Rh System The Rh factor was discovered in 1940 by K. Landsteiner and A.S WienerIn accordance with the Rh system humans are divided into 2 groups: Rh+ 85-90% ; Rh- 10-15% The symbol Rh come from the first two letters of the species name of the monkey (rhesus)

Rh+ individuals possess Rh antigen in the erythrocyte membrane, but no antibody against Rh in the blood plasmaRh- individuals must always be trans-fused with Rh- blood to avoid immun-ization and susequent reactionsRh- individuals do not possess Rh antigen in the erythrocyte membrane, and also no antibody against Rh in the blood plasma

A single pair of alleles, R and r, was postulated to account for the differen-ce between Rh+ and Rh-individualsOn the other hand, R.R. Race and R.A. Fisher explained the same data on the basis of three pairs of genes (C, D, and E) located near each other on the same chromosomeWiener developed a hypothesis based on a series of multiple alleles (Table 3)

The CDE multiple gene model is more simple and is more widely used in blood banks, hospitals, and medical practice than the multiple allele model

Approximate Frequencies of Blood Type in Caucasian Populations (percent)Table 3 Rh Blood-group Syatem. Symbols used by Fisher, Race, and Others on the Hypothesis of Three Closely Linked Gene Loci are Given with Those of Wiener on the Hypothesis of Multiple Alleles

Fisher and Race NotationsRh BloodNotations(Three) Genes AllelesType(One)GeneAllelesCDecDEcDeCDECdECdecdecdERh1Rh2Rh0Rhz rh rh rh rhyR1R2RoRz r r r ry 41 14 3 Rare 39 1 1 Very rare