Arnold G, Kloor D, Kömpf J, Ritter H
Institut für Anthropologie und Humangenetik der Universität, Tübingen, Germany.
Hum Hered. 1995 Nov-Dec;45(6):319-22. doi: 10.1159/000154300.
An extended polymorphism of the coagulation factor XIIIA can routinely be detected in human plasma samples and white cell lysates by isoelectric focusing in polyacrylamide gels containing 3 M urea in the pH range 5-8. Analyses of 184 families with 513 children confirmed the formal model proposed by Suzuki et al. [Am J Hum Genet 1988;43:170-174]. Four common alleles, F XIIIA1A, 1B, 2A, 2B, at an autosomal locus control the expression of ten phenotypes. On the basis of the population sample from southwest Germany the frequencies of the common alleles F XIIIA1A, 1B, 2A, 2B were calculated as 0.175, 0.609, 0.011, and 0.205, respectively.
通过在pH值范围为5 - 8且含有3M尿素的聚丙烯酰胺凝胶中进行等电聚焦,可常规检测人血浆样本和白细胞裂解物中凝血因子XIIIA的扩展多态性。对184个家庭的513名儿童进行的分析证实了铃木等人提出的正式模型[《美国人类遗传学杂志》1988年;43:170 - 174]。一个常染色体位点上的四个常见等位基因,即F XIIIA1A、1B、2A、2B,控制着十种表型的表达。根据来自德国西南部的人群样本,常见等位基因F XIIIA1A、1B、2A、2B的频率分别计算为0.175、0.609、0.011和0.205。