【摘要】 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。更多还原

【Abstract】 Polymorphism of an XbaI restriction endonuclease site in intron 22 of the factor Ⅷ gene was studied . 79 heredity-unrelated X chromosomes from 83 Chinese were analyzed .The frequency of the polymorphic site was 0.56, providing polymorphism information content (PIC ) of 0.49. Fourteen out of 17 families with hemophilia A could be diagnosed by the Xba 1/22i restricted fragment length polymorphism (RFLPs). Therefore , as a genetic marker within the factor Ⅷ gene , Xba I/22i RFLPs should be useful for prenatal diagnosis of hemophilia A and for detection of its carriers更多还原