【摘要】 ①目的　探讨甲型血友病携带者的基因诊断方法。②方法　应用聚合酶链反应（ Ｐ Ｃ Ｒ）结合限制性酶切片段长度多态（ Ｒ Ｆ Ｌ Ｐ）分析技术，对５ 个甲型血友病家系的 ２９ 名成员进行了 ＦⅧ基因外显子 １８ 和内含子 ２２ 两个多态位点的扩增片段限制酶切长度多态性连锁分析。并对其中的１ 个家系进行了产前基因诊断。③结果　５ 个家系中有 ５ 名女性被确定为携带者，１ 个家系的男性胎儿被确定为病人。④结论　 Ｐ Ｃ Ｒ Ｒ Ｆ Ｌ Ｐ方法可对多数甲型血友病进行基因诊断。更多还原

【Abstract】 Objective\ To study the gene diagnosis method of hemophillia A.\ Methods\ Amplified fragment restriction length polymorphism linkage analysis of exon 18 and intron 22 of FⅧ gene from 29 peoples of 5 families with hemophilia A were made by polymerase chain reaction(PCR) combined with restriction fragment length polymorphism(RFLP). One prenatal gene diagnosis was performed.\ Results\ 5 female carriers and one male fetus patient in all families were identified.\ Conclusion\ PCR RFLP could be used in the gene diagnosis of hemophilia A patients.\;更多还原