一种在1M尿素中使用等电聚焦测定FXIIIA基因变异体的新方法。FXIIIA1、FXIIIA2和FXIIIA3三个结构基因位点的证据。

A new method for FXIIIA genetic variants determination using isoelectric focusing in 1 M urea. Evidence for three structural gene loci, FXIIIA1, FXIIIA2, and FXIIIA3.

作者信息

Sebetan I M

机构信息

Department of Forensic Medicine, Tohoku University School of Medicine, Sendai, Japan.

出版信息

Hum Genet. 1988 Dec;81(1):95-7. doi: 10.1007/BF00283739.

DOI:10.1007/BF00283739

PMID:2904408

Abstract

A new method for separating genetic variants of the A subunit of human coagulation factor XIII using ultrathin layer polyacrylamide gel isoelectric focusing in 1 M urea followed by immunoblotting is described. The pattern obtained by this method differs from that reported previously: Three sets of unrelated band patterns are observed and can be explained by the existence of two additional gene loci, designated FXIIIA2 and FXIIIA3, besides the previously reported FXIIIA locus, now renamed FXIIIA1. The FXIIIA2 locus is polymorphic and shows three commonly occurring phenotypes, FXIIIA2 1, FXIIIA2 2-I, and FXIIIA2 2. These are determined by two common alleles, FXIIIA21 and FXIIIA22, with respective frequencies of 0.7965 and 0.2035 in the Japanese population. The studied population conforms to a Hardy-Weinberg equilibrium, and family data confirmed autosomal codominant transmission. The FXIIIA3 locus is monomorphic.

摘要

本文描述了一种新方法，该方法使用在1 M尿素中的超薄层聚丙烯酰胺凝胶等电聚焦，随后进行免疫印迹，以分离人凝血因子XIII A亚基的遗传变异体。通过该方法获得的模式与先前报道的不同：观察到三组不相关的条带模式，并且可以通过除先前报道的FXIIIA基因座（现重新命名为FXIIIA1）之外还存在另外两个基因座（命名为FXIIIA2和FXIIIA3）来解释。FXIIIA2基因座是多态性的，表现出三种常见的表型，即FXIIIA2 1、FXIIIA2 2-I和FXIIIA2 2。这些由两个常见等位基因FXIIIA21和FXIIIA22决定，在日本人群中的频率分别为0.7965和0.2035。所研究的人群符合哈迪-温伯格平衡，家族数据证实了常染色体共显性遗传。FXIIIA3基因座是单态性的。