第Ⅷ凝血因子基因内限制性片段长度多态性(RFLP)的研究及其在甲型血友病基因连锁分析中的应用

本文系统地研究了广东地区汉族人群中FⅧ:C基因内BclⅠ,XbaⅠ和BgⅡ位点RFLP的基因频率。多态性位点BclⅠ,XbaⅠ及BglⅠ的切点阳性率分别为63.5%、43.5%和100%。对Bcll和Xbal多态性切点连锁情况研究显示,19.5%的Bcll切点阳性纯合子为Xbal切点杂合子,证明联合应用此两位点RFLP可以把甲型血友病基因连锁分析的有效率提高到65.9%。用RFLP连锁分析对两例甲型血友病家系中的女性进行了致病基因携带者检测,对另一例家系进行了基因产前诊断。

Restriction Fragment Length Polymorphisms in FVIII:C Gene and Their Application in the Linkage Analysis of Hemophilia A

The Han people in Ouangong province were studied to determine the frequencies of Bell, Xbal, and Bgll restriction fragment length polymorphisms (RFLPs) in FVIII:C gene. The incidences for positive Bell, Xbal, and Bgll sites were 63.5%, 43.5%, and 100%, respectively. Linkage of Bell and Xbal RFLPs were studied and the result showed that 19.5 percent of positive Bell polymorphic site homozygotes were heterozygous for the Xbal RFLP. Hence combining these two RFLPs was informative for 65.9 percent of females. We implemented carrier detection in two hemophilia A families and prenatal diagnosis in another hemophilia A family with these RFLPs.