凝血因子 XIII 中 a 和 b 亚基的正常基因与异常基因。

The normal and abnormal genes of the a and b subunits in coagulation factor XIII.

作者信息

Ichinose A, Izumi T, Hashiguchi T

机构信息

Department of Molecular Patho-Biochemistry, Yamagata University School of Medicine, Japan.

出版信息

Semin Thromb Hemost. 1996;22(5):385-91. doi: 10.1055/s-2007-999036.

DOI:10.1055/s-2007-999036

PMID:8989821

Abstract

Factor XIII consists of two catalytic a and two noncatalytic b subunits. The gene for the a subunit is located on chromosome 6, the gene for the b subunit on chromosome 1. Both genes have been characterized. There are several different allelic forms of the a subunit in the normal population and some microheterogeneity for the b subunit. Most patients with congenital factor XIII deficiency lack the a subunit in plasma; few patients appear to have a complete lack of the b subunit. The genes from patients with factor XIII deficiencies were obtained and examined. Based on these analyses a new genetic classification for factor XIII deficiency is proposed: a deficiency of the a subunit (formerly termed type II), a deficiency of the b subunit (formerly known as type I), and a possible combined deficiency of both a and b subunits.

摘要

凝血因子 XIII 由两个催化性 a 亚基和两个非催化性 b 亚基组成。a 亚基的基因位于 6 号染色体上，b 亚基的基因位于 1 号染色体上。这两个基因均已得到表征。正常人群中 a 亚基存在几种不同的等位基因形式，b 亚基存在一些微异质性。大多数先天性凝血因子 XIII 缺乏症患者血浆中缺乏 a 亚基；少数患者似乎完全缺乏 b 亚基。获取并检测了凝血因子 XIII 缺乏症患者的基因。基于这些分析，提出了一种新的凝血因子 XIII 缺乏症基因分类：a 亚基缺乏症（以前称为 II 型）、b 亚基缺乏症（以前称为 I 型）以及 a 和 b 亚基可能的联合缺乏症。