Shen Y
Institute of Basic Medical Sciences, Beijing.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 1990 Aug;12(4):281-5.
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.
研究了凝血因子VIII基因内含子22中XbaI限制性内切酶位点的多态性。分析了来自83名中国人的79条与遗传无关的X染色体。该多态性位点的频率为0.56，多态性信息含量（PIC）为0.49。17个甲型血友病家庭中有14个可通过Xba 1/22i限制性片段长度多态性（RFLPs）进行诊断。因此，作为凝血因子VIII基因内的遗传标记，Xba I/22i RFLPs应有助于甲型血友病的产前诊断及其携带者的检测。
