用微卫星DNA多态性进行血友病甲基因诊断的研究

Study on Gene Diagnosis in Hemophilia A by Microsatellite DNA Polymorphism

目的 :研究FⅧ基因 13内含子 (CA)n重复序列 (CA 13)、2 2内含子 (CA)n重复序列 (CA 2 2 )及基因旁微卫星DNADXS15位点的多态性在血友病甲基因诊断中的应用价值。方法 :用聚合酶链反应 (PCR)和聚丙烯酰胺凝胶电泳(测序胶 )的方法 ,检测了三个血友病甲家系共 12名成员X染色体CA 13、CA 2 2、DXS15的长度变化 ,并进行连锁分析结果 :三个家系均得到诊断 ,并检出一名携带者。结论 :用微卫星多态性进行血友病甲基因诊断 ,方法简便可行 。

Objective: To study the application of microsatellite DNA polymorphism in gene in hemophilia A. Methods: The polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis (PAGE) methods were used to examine the variability of the lengths in 12 individuals of three hemophilia A families, and linkage analysis was used simultaneously to detect carriers.Results: Three families were all diagnosed and a carrier was detected. Conclusion: Application of microsatellite DNA polymorphisms to detect carriers is a new effective method in haemophilia A gene diagnosis.