中华医学杂志（英文版）2002，Vol.115Issue(7)：991-994,4.
血友病A携带者检测与产前诊断
Carrier detection and prenatal diagnosis of hemophilia A
刘元方 1王学锋 1储海燕 1李志广 1璩斌 1王鸿利 1王振义1
作者信息
- 1. 上海第二医科大学附属瑞金医院,上海血液学研究所,上海,200025
- 折叠
摘要
Abstract
Objective To establish an effective laboratory examination system for carrier detection and prenatal diagnosis of haemophilia A (HA) with a variety of molecular biological methods which are simple, rapid and easy to use. Methods Detection of inversion involving intron 22 in the FⅧ gene was completed by long distance polymerase chain reaction (PCR) and linkage analysis was performed by using several genetic polymorphisms including an intragenic BclⅠ RFLP, 2 STRs and an extragenic St14 VNTR. Results Intron 22 inversion was observed in 10 out of the 21 (47.6%) pedigrees examined. Prenatal diagnosis was completed in 3 pedigrees. A further combination of the four intragenic and extragenic polymophic loci gave an informative rate of 94.7%. Conclusions Female relatives in HA families with inversion can be detected with direct diagnostic procedure. The application of long distance PCR makes the detection much more simple and rapid. For families without inversions, it is easier and more cost-effective to undertake linkage analysis of genetic polymorphism based on PCR.关键词
血友病A 内含子22倒位 遗传连锁分析 多聚酶链反应Key words
Hemophilia A/inversion of intron 22/linkage analysis/polymerase chain reaction分类
医药卫生引用本文复制引用
刘元方,王学锋,储海燕,李志广,璩斌,王鸿利,王振义..血友病A携带者检测与产前诊断[J].中华医学杂志（英文版）,2002,115(7):991-994,4.
