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

A multifluorescent STR-PCR for prenatal gene diagnosis of hemophilia A carriers

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。

Objective To establish a reliable method for prenatal diagnosis of hemophilia A by genetic linkage analysis. Method Muhifluorescent 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 F8Civsl3 were 88%, 84%, 20%, 62%, 22% and 30%. Twenty hemophilia A carriers were successfully identified by these six STRs loci. Conclusion Muhifluorescent STR-PCR is a convenient and efficient method for prenatal diagnosis of hemophilia A.