11个甲型血友病家系FⅧ基因的RFLPs连锁分析

RESTRICTION FRAGMENT LENGTH POLYMORPHISMS (RFLPs) ANALYSIS IN 11 HEMOPHTLIA A FAMTLIES

应用Southern印迹杂交方法和PCR新技术,对东北地区11个甲型血友病家系检测FⅧ基因内的Bcl Ⅰ和Xba Ⅰ位点的RFLPs和基因外Stl4/Taq I RFLPs,分析了FⅧ基因的连锁状况,7名肯定携带者中4名能提供多态信息,4名可疑携带者之中2名可确定为缺陷FⅧ基因的携带者,1名可确定为正常FⅧ基因。为婚姻、生育指导和产前基因诊断提供依据。进一步明确了应用PCR技术联合进行多个位点的RFLPs连锁分析进行甲型血友病基因诊断的可行性及优越性。

This is a report on the intragenic Bcl I RFLP, XbaI RFLP and extragenic St14/TaqI RFLPs detection of FⅧ gone by Southern blot and polymerase chain reaction (PCR) in 11 hemophilia A families in Northeast China with FⅧ gene linkage analysis. Four out of 7 definite carriers could provide polymorphic information, 2 out of 4 putative carriers could be determined for carriers of FⅧ gene defect, one for nomal FⅧ gene. These could provide basis for marriage, birth guiding, and prenatal diagnosis. Furthermore, the studies showed that combining of more polymorphic markers of RFLP analysis of gene diagnosis in hemopilia A by. PCR was feasible and advantageous.