STUDY ON BclI/St14 RFLPs IN CHINESE FOR DNA DIAGNOSIS FOR HEMOPHILIA A

The BclI polymorphism within DXS52 (St14) was reported. It was composed of 4 allelic fragments 4.0 kb, 3.3 kb, 3.0 kb and 2.3 kb, The frequency of these fragments were 0.09, 0.12, 0.44 and 0.35 respectively in the Chinese. The polymorphism provided the PIC of 0.66. DNA analysis of families, with hemophilia A showed that the confidence of the RFLPs was the same as the TaqI/St14 RFLPs and for carrier detection the former is much better than that of the TaqI/St14 RFLPs.     

中国人Bcll/St14 RFLPs研究与甲型血友病基因诊断

本文报道了St14(DXS52)上的一组BclI限制酶片段长度多态性(RFLPs)。该RFLPs由4.0kb,3.3kb,3.0kb和2.3kb DNA片段组成。在中国人中这组多态性片段出现的频率分别为0.09,0.12,0.44和0.35,提供的多态性信息量为0.66。甲型血友病家系基因连锁分析结果表明,这组RFLPs的DNA杂交图谱较目前国际上广泛使用的TaqI/St14 RFLPs更易于分析,在甲型血友病基因连锁分析中具有较高的应用价值。