用于检测甲型血友病携带者的限制性片段长度多态性分析的患病率研究。

The prevalence study on restriction fragment length polymorphism analysis for the detection of hemophilia A carrier.

作者信息

Song K S, Lee C H, Chung C S, Lee K, Yang Y H, Kim K Y

机构信息

Department of Clinical Pathology, Obstetrics & Gynecology, Yonsei University College of Medicine, Seoul, Korea.

出版信息

Yonsei Med J. 1993 Sep;34(3):239-42. doi: 10.3349/ymj.1993.34.3.239.

DOI:10.3349/ymj.1993.34.3.239

PMID:7903130

Abstract

We have analyzed two (BclI and XbaI) intragenic restriction fragment length polymorphisms (RFLPs) and St14 (DXS52) variable number of tandem repeats (VNTR) by rapid PCR method in 97 unrelated normal subjects. The incidences for positive Bc1I and XbaI polymorphic sites in the Koreans were 81% and 72%, respectively, which were higher than other ethnic groups but similar to that reported in the Chinese or Japanese, giving the heterozygosity rate of 0.32 and 0.40, respectively. The amplified allele size was 880 bp with no other polymorphism in the analysis of St14 (DXS52) VNTR. This finding should be taken into account in the planning of a prenatal diagnosis program for ethnic Koreans.

摘要

我们采用快速聚合酶链反应方法，对97名无亲缘关系的正常受试者分析了两个基因内限制性片段长度多态性（RFLP，即BclI和XbaI）以及St14（DXS52）串联重复序列可变数目（VNTR）。韩国人中Bc1I和XbaI多态性位点阳性的发生率分别为81%和72%，高于其他种族群体，但与中国或日本报道的相似，杂合子率分别为0.32和0.40。在St14（DXS52）VNTR分析中，扩增的等位基因大小为880 bp，无其他多态性。在为韩国人制定产前诊断计划时应考虑这一发现。