STR遗传标记在广西地区血友病A携带者诊断中的应用

目的：建立理想的STR遗传标记体系，对广西地区血友病A携带者进行快速简便的基因诊断。方法：选取广西地区10个血友病A家系作为研究对象，运用荧光PCR联合毛细管电泳的方法，对家系成员中FⅧ基因内外具有高度遗传性的3个STR位点F8Int13、DXS1073、DXS9901进行等位基因分型，评估该体系用于家系中血友病A携带者的诊断效率，并对待检者进行携带者诊查。结果：10个血友病A家系中，11例肯定女性携带者均含有与相应先证者完全一致的3个STR等位基因（F8Int13、DXS1073、DXS9901）片段长度；在待检的8例女性中，5例检出3个STR等位基因片段与相应家系中先证者完全相同，被诊断为血友病A携带者。结论：联合应用3个STR位点F8Int13、DXS1073、DXS9901进行遗传分析能够快速检出血友病A携带者，给血友病A产前诊断提供可靠的依据。

Application of STR genetic marker system in the detection of hemophilia A carriers in Guangxi, China

Objective To establish a fast and simple genetic diagnosis technique based on a reliable,short tandem repeat(STR) genetic marker system for the detection of hemophilia A carriers in Guangxi,China.Methods Fluorescent PCR and capillary electrophoresis were used for allele genotyping at three intragenic/extragenic STR loci(F8Int13,DXS1073,and DXS9901) of FVIII gene in the members of 10 hemophilia A families in Guangxi,so as to evaluate the diagnostic efficiency of the STR genetic marker system for detection of hemophilia A carriers.Then the STR genetic marker system was used to detect hemophilia A carriers among examinees.Results In the 10 hemophilia A families,11 confirmed female carriers had the same allele fragment lengths at the three STR loci(F8Int13,DXS1073,and DXS9901) as the probands.Of the 8 females examined,5 had allele fragments at the three STR loci(F8Int13,DXS1073,and DXS9901) which were identical to those of the probands,and thus they were diagnosed as hemophilia A carriers.Conclusions Genetic analysis at the three STR loci(F8Int13,DXS1073,and DXS9901) can be used to detect hemophilia A carriers rapidly and provide reliable basis for prenatal diagnosis of hemophilia A.