Boutin B, Feng S H, Arnaud P
Am J Hum Genet. 1985 Nov;37(6):1098-105.
The genetic polymorphism of human alpha 2-HS glycoprotein was studied by ultrathin-layer isoelectric focusing in a pH range 4.2-4.9 followed by immunoblotting using antisera specific for the protein. Three common phenotypes, HSGA1-1, HSGA2-2, and HSGA1-2, were easily recognized using this technique. Each homozygous phenotype was constituted by five major bands with different pI's, and the heterozygous phenotype represented an exact combination of each of them. After removal of sialic acid, each homozygous pattern was resumed in a single band, which differed in charge between HSGA1 and HSGA2. Asialo-heterozygous HSG1-2 combined the two bands characteristic of each allele product. Family studies are in agreement with an autosomal codominant transmission of the two alleles. Population studies indicate that the frequency of the HSGA1 and 2 alleles are .65 and .35, respectively.
采用超薄层等电聚焦技术在4.2 - 4.9的pH范围内对人α2 - HS糖蛋白的遗传多态性进行了研究,随后使用针对该蛋白的抗血清进行免疫印迹分析。使用该技术可轻松识别出三种常见表型,即HSGA1 - 1、HSGA2 - 2和HSGA1 - 2。每种纯合表型由五条具有不同pI值的主要条带组成,杂合表型则是它们各自的精确组合。去除唾液酸后,每种纯合模式恢复为一条单一的条带,HSGA1和HSGA2之间的电荷不同。去唾液酸杂合HSG1 - 2结合了每个等位基因产物的两条特征条带。家系研究与两个等位基因的常染色体共显性遗传一致。群体研究表明,HSGA1和2等位基因的频率分别为0.65和0.35。