Suzuki K, Matsui K, Ito S, Fujita K, Matsumoto H
Department of Legal Medicine, Osaka Medical College, Takatsuki.
Am J Hum Genet. 1988 Aug;43(2):170-4.
Agarose gel isoelectric focusing (pH 5--6.5) in the study of plasma factor XIII (FXIII) polymorphism revealed heterogeneity characterized by a narrow or broad type of the electrophoretic band of the A subunit (FXIIIA). Isoelectric focusing in polyacrylamide gels supplemented with 2 M urea could clearly discriminate three different patterns in each of the two homomeric dimers, FXIIIA 1 and FXIIIA 2. These patterns can be explained by the existence of two codominant subtypes in each of the two common alleles, FXIIIA1 and FXIIIA2. These subtypes are termed FXIIIA1A, 1B, 2A, and 2B, respectively. In random population samples of Japanese, all the possible phenotypes deduced from the four codominant alleles were observed except for the FXIIIA 2A homozygote with the least frequency. This hypothesis is compatible with the segregation study on 35 family samples. The frequencies of the four alleles were calculated in 433 unrelated Japanese as being .2748 for FXIIIA1A, .6201 for FXIIIA1B, .0069 for FXIIIA2A, and .0982 for FXIIIA*2B. The data obtained in this study will contribute much more to disputed paternity cases and to anthropological surveys than will the former FXIIIA system with two common alleles.
在血浆因子 XIII(FXIII)多态性研究中,采用琼脂糖凝胶等电聚焦法(pH 5 - 6.5),结果显示 A 亚基(FXIIIA)电泳带呈窄型或宽型,具有异质性。在添加 2M 尿素的聚丙烯酰胺凝胶中进行等电聚焦,可清晰区分两种同型二聚体 FXIIIA 1 和 FXIIIA 2 各自的三种不同模式。这两种常见等位基因 FXIIIA1 和 FXIIIA2 中的每一个都存在两种共显性亚型,由此可解释这些模式。这些亚型分别称为 FXIIIA1A、1B、2A 和 2B。在日本人群的随机样本中,除了频率最低的 FXIIIA 2A 纯合子外,观察到了由这四个共显性等位基因推导的所有可能表型。该假设与对 35 个家庭样本的系谱研究结果相符。在 433 名无亲缘关系的日本人中计算出这四个等位基因的频率分别为:FXIIIA1A 为 0.2748,FXIIIA1B 为 0.6201,FXIIIA2A 为 0.0069,FXIIIA*2B 为 0.0982。与之前具有两个常见等位基因的 FXIIIA 系统相比,本研究获得的数据将对有争议的亲子鉴定案件和人类学调查做出更大贡献。