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本文研究了中国人FⅧ基因22内含子中限制酶XbaⅠ的多态性。在83个中国人的79条无遗传关系的X染色体中,该多态性位点出现的频率为0.56,提供的多态性信息量为0.49。利用RFLP法,分析了17个甲型血友病家系,其中14个家系可以用此RFLPs进行基因诊断。认为核RFLPs作为FⅧ基因内的多态性遗传标志,在甲型血友病基因携带者检出和胎儿出生前诊断中具有重要的应用价值。
In this paper, we investigated the polymorphism of restriction enzyme Xba I in intron 22 of Chinese FⅧ gene. In the 79 Chinese non-genetic relationship of the X chromosome, the polymorphic loci frequency of 0.56, the amount of information provided is 0.49. Using RFLP, 17 families of hemophilia A were analyzed, of which 14 families could use this RFLPs for gene diagnosis. It is considered that nuclear RFLPs are genetic markers of polymorphism in FⅧ gene and have important application value in the detection of carriers of Hemophilia A and prenatal diagnosis.