【摘要】 目的:探讨用多态性位点分析进行非凝血因子Ⅷ基因内含子22倒位型血友病A产前诊断。方法:用PCR-琼脂糖电泳、PCR-聚丙烯酰胺凝胶电泳、PCR-限制性酶切片段长度多态性等方法,选择FⅧ基因内BclⅠ位点、XbaⅠ位点、CA-13、CA-22,FⅧ基因旁侧DXS52(ST14)和DXS15位点,对11例非凝血因子Ⅷ基因内含子22倒位型血友病A家系进行产前诊断。结果:11例非凝血因子Ⅷ基因内含子22倒位型血友病A家系均可通过使用6个多态位点进行产前诊断,其中4例家系胎儿为血友病患者的可能性大,选择了引产,另7例家系胎儿为健康个体的可能性大,出生后经诊断均健康。结论:检测FⅧ基因内、外多个多态性位点可对非凝血因子Ⅷ基因内含子22倒位型血友病A家系进行高效、快速的产前诊断。更多还原

【Abstract】 Aim:To explore prenalal diagnosis in patients with hemophilia A of inversion negative in intron 22 of factor Ⅷ gene by DNA polymorphism analysis. Methods:For prenatal diagnosis of eleven hemophilia A families, polymorphism of factor Ⅷ intragenic RFLP of Bcl Ⅰ and Xba Ⅰ,STR within intron 13 and 22, extragenic STR of DXS15, as well as extragenic VNTR of DXS52(ST14) were analysed by PCR-PAGE and PCR-RFLP. Results: The total prenatal diagnosis rate of 11 hemophilia A families was 100% by using 6 intragenic or extragenic loci of Factor Ⅷ gene. 4 fetuses of 11 families were diagnosed with hemophilia A, and the pregnancies were terminated. The other 7 fetuses of them were normal, the diagnosis was conformed by the test for the DNA of neonates. Conclusion: It is an effective and rapid method for prenatal diagnosis by detection of the intragenic or extragenic polymorphism loci of Factor Ⅷ gene.更多还原