多重荧光STR-PCR方法在血友病A携带者产前基因诊断中的应用

摘要

Objective To establish a reliable method for prenatal diagnosis of hemophilia A hy genetic linkage analysis. Method Multifluorescent STR-PCR method was used to analyze 50 normal females and 20 hemophilia A families. Result The heterozygote rate of DXS15 , DXS9901 , G6PD , DXS1073 , DXS1108 and F8Civs13 were 88％ , 84％ , 20o/e , 62％ , 22％ and 30％. Twenty hemophilia A carriers were successfully identified by these six STRs loci. Conclusion Multifluorescent STR-PCR is a convenient and efficient method for prenatal diagnosis of hemophilia A.%目的:通过血友病A家系遗传连锁分析,建立血友病A携带者产前诊断方法.方法:采用多重荧光STR-PCR方法对50例正常女性进行检测和20个血友病A家系进行连锁分析.结果:DXS15、DXS9901、G6PD、DXS1073、DXS1108和F8Civs13的杂合率分别为88%、84%、20%、62%、22%和30%;用这6个位点提供的遗传信息成功为20个血友病A携带者进行了产前诊断.结论:多重荧光STR-PCR方法是一种快速、简便、实用的血友病A产前诊断方法.