Waldinger D, Cleve H
Institute of Anthropology and Human Genetics, University of Munich, Federal Republic of Germany.
Electrophoresis. 1988 Aug;9(8):375-9. doi: 10.1002/elps.1150090805.
Genetic polymorphisms of seven human lymphocyte proteins, analyzed by two-dimensional electrophoresis, were evaluated in respect to their suitability for paternity testing. Current data of an enlarged family and population study for five proteins (p23, p30, p40, p60, p66), already described for a smaller population sample of Southern Germany, are presented together with evidence for a new polymorphic protein (p42), recently observed in our survey. These six proteins occurred in isoelectric focusing as two different variants, acidic (a) and basic (b). The genetic basis of the protein variations was ascertained (i) by the presence of homozygous and heterozygous phenotypes, (ii) by the Mendelian mode of transmission of the variants as allelic gene products within 17 families and (iii) by the demonstration of a gene-dosage dependence comparing the spot intensities in homozygous and heterozygous phenotypes. For quantitative data, laser densitometric scanning of the protein spots followed by computer-assisted quantitative evaluation of the spot intensities was performed. The allele frequencies of the polymorphic protein were calculated from the phenotype distributions within a sample of 56 unrelated individuals from Southern Germany. Gene frequencies of the common alleles ranged between 0.991 and 0.518. To discuss the suitability of the two-dimensional polymorphisms for paternity testing the theoretical exclusion probabilities were assessed for seven polymorphic proteins observed in our population sample, the six polymorphisms with two alleles described here and a further polymorphism (p75) with six alleles. For five proteins (p23, p40, p42, p66 and p75) we found sufficiently high values for the theoretical exclusion probabilities, ranging from 10% to 34%.(ABSTRACT TRUNCATED AT 250 WORDS)
通过二维电泳分析的七种人类淋巴细胞蛋白的基因多态性，就其在亲子鉴定中的适用性进行了评估。给出了一个大家庭和针对五种蛋白（p23、p30、p40、p60、p66）的群体研究的最新数据，这五种蛋白在德国南部较小群体样本中已有描述，同时还给出了我们在调查中最近观察到的一种新的多态性蛋白（p42）的证据。这六种蛋白在等电聚焦中呈现为两种不同变体，即酸性（a）和碱性（b）。蛋白变异的遗传基础通过以下方式确定：（i）存在纯合和杂合表型；（ii）在17个家庭中，变异体作为等位基因产物以孟德尔遗传模式传递；（iii）通过比较纯合和杂合表型中的斑点强度来证明基因剂量依赖性。对于定量数据，对蛋白斑点进行激光密度扫描，然后进行计算机辅助的斑点强度定量评估。从德国南部56名无亲缘关系个体的样本中的表型分布计算多态性蛋白的等位基因频率。常见等位基因的基因频率在0.991至0.518之间。为了讨论二维多态性在亲子鉴定中的适用性，对我们群体样本中观察到的七种多态性蛋白、这里描述的六种双等位基因多态性以及另一种具有六个等位基因的多态性（p75）评估了理论排除概率。对于五种蛋白（p23、p40、p42、p66和p75），我们发现理论排除概率的值足够高，范围从10%到34%。（摘要截短于250字）
