联合多个STR位点对血友病B家系进行携带者检出与产前基因诊断  

Carrier detection and prenatal diagnosis of haemophilia B by multiple STR analysis

作　　者：周海燕[1] 邹永华[1] 吴嵩龄[1] 倪斌[1] 

机构地区：[1]湖南省计划生育研究所省现代优生技术重点实验室,湖南长沙410008

出　　处：《中国优生与遗传杂志》2008年第3期74-75,60,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的通过血友病B家系遗传连锁分析,建立其产前诊断方法。方法应用PCR方法,检测了三个血友病B家系(16人)凝血因子Ⅸ(FⅨ)基因外6个STR位点的多态性,并进行家系遗传连锁分析。结果成功地对家系A进行了产前诊断,6个STR位点中3个提供了遗传信息,检测出待诊胎为女性携带者。结论联合多个STR位点多态性检测是血友病B基因诊断的一种简便、快速、有效的方法。Objective： To establish a reliable method of prenatal diagnosis for haemophilia B by locus linkage analysis, Methods： Using PCR technique, we detected the polymorphisms of extragenic six STR loci of factor Ⅸ and analysed their linkage relationship in three haemophilia B families. Results： Three of the six STR loci could provid genetic information for No, A of the three families, one patient and three carriers were diagnosed successfully, Conclusion： It is a simple and rapid method for the hemophilia B carrier and prenatal diagnosis to detect the multiple extragenic STR loci of factor Ⅸ and then analyse their heredity linkage relationship.

关 键 词：血友病B 连锁分析 STR位点 

分 类 号：R714.5[医药卫生—妇产科学]