应用凝血因子Ⅷ基因多态性产前诊断血友病甲

Prenatal Diagnosis of Hemophilia A by Using FⅧ Gene Polymophism

以凝血因子Ⅷ重组基因克隆 FⅧ_(E18—st14)为探针,用限制性内切酶 Taq I 酶解后所产生的限制性片段长度多态性(RFLP)连锁分析,成功地对1例血友病甲高危胎儿进行了产前基因诊断,排除了血友病甲的可能,使妊娠得以继续进行。另外,对该家系的血友病发病机制进行了分析与探讨。

By using a coloned recombinat FⅧ gene cDNA fragment FⅧ_(E18-st14) andthe restriction enzyme TagI,we have succssfully performed the prenatal diagnosisin a case at high risk of hemophilia A,based on the restriction fragment lengthpolymorphism(RFLP)analysis,the negative result enables the pregnacy to becontinued.In addition,the pathogenetic machanism of the hemophilia A in thisfamily was also explored and discussed at molecular level.