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Detection of factor Ⅷ intron 1 inversion in severe haemophilia A
作者姓名:梁燕  闫振宇  闫梅  华宝来  肖白  赵永强  刘敬忠
作者单位:首都医科大学附属北京朝阳医院基础医学研究中心,北京,100020;北京协和医院血液科;
摘    要:Objective Screening the intron 1 inversion of factor Ⅷ (FⅧ) in the population of severe haemophilia A(HA) in China and performing carrier detection and prenatal diagnosis. Methods Using LD-PCR to detect intron 22 inversions and multiple-PCR within two tubes to intron 1 inversions in sereve HA patients. Carrier detection and prenatal diagnosis were performed in affected families. Linkage analysis and DNA sequencing were used to verify these tests. Results One hundred and eighteen patients were seven diagnosed as intron 22 inversions and 7 were intron 1 inversions out of 247 severe HA patients. The prevalence of the intron 1 inversion in Chinese severe haemophilia A patients was 2. 8% (7/247). Six women from family A and 2 from family B were diagnosed as carriers. One fetus from family A was affected fetus. Conclusion Intron 1 inversion could be detected directly by multiple-PCR within two tubes. This method made the strategy more perfective in carrier and prenatal diagnosis of haemophilia A.

关 键 词:血友病A   第1内含子倒位   携带者检测   产前诊断   
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