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

作　　者：武守山[1,2] 李艳华[1,2] 崔和勤[1,2] 谢跃生[1,2] 郑俊国[1,2] 潘秀英[1,2] 张海莲 赵瑞蒲[1,2] 张庆波华 

机构地区：[1]北煤炭医学院医学遗传学教研室 [2]北京医科大学人民医院中心实验室

出　　处：《中华医学遗传学杂志》1998年第2期78-80,共3页Chinese Journal of Medical Genetics

基　　金：煤炭系统留学回国人员科研基金

摘　　要：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.

关 键 词：甲型血友病 HindⅢ多态性 Ⅷ因子基因 PCR 

分 类 号：R554.104[医药卫生—血液循环系统疾病]