使用三种基因内和两种基因外凝血因子VIII DNA探针检测日本甲型血友病携带者：对24个家族的研究

Carrier detection in Japanese hemophilia A by use of three intragenic and two extragenic factor VIII DNA probes: a study of 24 kindreds.

作者信息

Suehiro K, Tanimoto M, Hamaguchi M, Kojima T, Takamatsu J, Ogata K, Kamiya T, Saito H

机构信息

First Department of Internal Medicine, Nagoya University School of Medicine, Japan.

出版信息

J Lab Clin Med. 1988 Sep;112(3):314-8.

PMID:2900870

Abstract

The three factor VIII intragenic restriction fragment length polymorphisms (RFLPs), Bcll, Xbal, and Bgll and the two extragenic RFLPs, Bglll/DX13 and Taql/St14, were analyzed in 60 normal Japanese subjects and 24 families with hemophilia A. The allele frequencies were determined and the extent of linkage disequilibrium among the polymorphisms was assessed. In contrast to intragenic RFLPs of the factor IX gene, intragenic and extragenic RFLPs of the factor VIII gene in Japanese were similar to those observed in whites. As in whites, marked linkage disequilibrium severely compromised the value of the Bgll RFLP. The combination of the Bcll, Xbal, and Taql/St14 RFLPs gave 100% carrier detection in the hemophilia A families analyzed.

摘要

在60名正常日本受试者和24个甲型血友病家庭中，分析了三种凝血因子VIII基因内限制性片段长度多态性（RFLP），即Bcll、Xbal和Bgll，以及两种基因外RFLP，即Bglll/DX13和TaqI/St14。确定了等位基因频率，并评估了多态性之间的连锁不平衡程度。与凝血因子IX基因的基因内RFLP不同，日本人群中凝血因子VIII基因的基因内和基因外RFLP与白人中观察到的相似。与白人一样，明显的连锁不平衡严重损害了Bgll RFLP的价值。在所分析的甲型血友病家庭中，Bcll、Xbal和TaqI/St14 RFLP的组合实现了100%的携带者检测。