摘要
St 14(DXS 52)是人X染色体长臂远端的一段基因外DNA序列,与FVⅢ基因紧密连锁。我们分析了95个中国人的St 14/Taq I RFLPs,在44条无遗传关系的X染色体中,St14/Taq 13.6 kb片段出现的频率为31％而4.5kb、4.1kb片段出现的频率则相对较低,与国外报道明显不同。以此RFLPs作为FVⅢ基因的遗传标志,我们分析了8个甲型血友病家系。3个家系中有缺陷FVⅢ基因的可以用此RFLPs进行连锁分析,其中1例为首次应用这一RFLPs连锁分析完成的产前基因诊断。
The genomic DNA fragment St14 (DXS52) is located in q28 region of X chromosomethat also contains the hemophilia A locus.The RFLPs of Stl4/Taq I in Chinese were studied.The frequency of allele 7A (3.6 kb) is 31%,which is obviously different from the data reportedabroad.By use of the RFLPs,8 families with hemophilia A were analysed,including 1 casefor first trimester prenatal diagnosis at risk of hemophilia A.
