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,...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。展开更多
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 Chi...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.展开更多
文摘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.
