甲型血友病基因诊断及产前诊断的研究进展  

Advances in Gene Diagnosis and Prenatal Diagnosis of Hemophilia A

作　　者：陈淑芬[1] 蒋玮莹[1] 

机构地区：[1]中山大学中山医学院医学遗传学教研室, 广州510080

出　　处：《国际遗传学杂志》2009年第3期195-198,229,共5页International Journal of Genetics

基　　金：国家自然科学基金（30571025）

摘　　要：甲型血友病是最常见的遗传性出血性疾病，受到了国内外研究者们的极大关注。由于此病尚无彻底根治方法，所以基因诊断及产前诊断显得尤为重要。基因诊断可分为直接基因诊断及间接连锁分析的方法；产前诊断的手段也在近年飞速发展。本文就直接基因诊断、间接连锁分析及产前诊断新技术这几方面的研究进展综述如下。Hemophilia A is the most common hereditary hemorrhagic disease, which attracts great attention. Because we lack of effective curing methods for this disease, gene diagnosis and prenatal diagnosis of hemophilia A become extremely important. The gene diagnosis includes direct gene diagnosis and indirect linkage analysis. The techniques of prenatal diagnosis for the disease have developed rapidly in resent years. We review the update on the gene diagnosis and prenatal diagnosis for Hemophilia A.

关 键 词：甲型血友病 基因诊断 产前诊断 

分 类 号：R4[医药卫生—临床医学] R714