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。
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.\;
出处
《青岛医学院学报》
1999年第3期165-166,共2页
Acta Academiae Medicinae Qingdao Universitatis
关键词
血友病
基因诊断
甲型血友病
PCR-RFLP
hemophilia A
heterozygote detection
polymerase chain reaction
restriction fragment length polymorphism
