PCR法分析甲型血友病Ⅷ因子基因HindⅢ多态性位点检测携带者

DETECTION OF HEMOPHILIA A CARRIERS BY PCR ANALYSIS OF Hind Ⅲ POLYMORPHISM IN THE FACTOR Ⅷ GENE

目的探讨ＰＣＲ法对甲型血友病Ⅷ因子基因ＨｉｎｄⅢ多态性位点分析检测携带者。方法用ＰＣＲ扩增６个甲型血友病患者家系和２０７条无亲缘关系的Ｘ染色体的Ⅷ因子基因１９内含子，用ＨｉｎｄⅢ酶切进行Ａｍｐ－ＲＦＬＰｓ分析。结果查明ＨｉｎｄⅢ多态性位点频率为０．２９，根据Ｈａｒｄｙ－Ｗｅｉｎｂｅｒｇ定律计算妇女杂合子频率为０．４１，证明这个指数对检测甲型血友病携带者和进行产前诊断具有足够的信息量。研究的６个家系中有２个有信息（３３％）。

Objective To explore a scheme of using PCR analysis in the detection of carriers of HindⅢ polymorphism of factor Ⅷ gene of hemophilia A.Methods Implicating intron 19 of the factor Ⅷ gene of 6 patients with the hemophilia A and 207 unrelated X chromosomes were amplified by PCR and were analysed by means of Amp RFLPs of Hind Ⅲ.Results The incidence of the polymorphic Hind Ⅲ sites in the given population was found to be 0.29. The frequence of the Hind Ⅲ heterozygotes in women calculated according to Hardy Weinberg equation was 0.41, which proved to be informative enough for carrier detection and prenatal diagnosis of hemophilia A. 2 out of 6 families (33%) examined in this study were informative.Conclusion The new scheme proved to be effective for hemophilia A carrier detection and prenatal diagnosis.