四个血友病A家系携带者基因诊断与产前诊断

Carrier Detection and Prenatal Diagnosis of 4 Family Hepomphilia A

应用凝血因子Ⅷ（FⅧ）的I_（14）E_（18）/BclⅠ,DX_（13）/BglⅡ限制性片段长度多态性（RFLP）基因连锁分析及聚合酶链反应（PCR）的性别诊断,对天津的4个血友病A家系共27名成员中的13名女性进行了基因诊断。其中血友病A必然携带者3人,诊断出非携带者3人,携带者5人。2例高危胎儿经PCR性别检测及RFLP分析均为女性不携带血友病A基因,足月生产女婴。

In this paper,we determined genetic types of 27 members (14 men and 13 women) in 4 family. Hemophilia A familys using genetic probs I14 E18/Bcl I, DX13/ Bgl II RFLP for FVIII gene and PCR technigue in first time in Tianjin area. The results of genetic diagnosis for 13 women showed that 3 women were non-carriers and other 5 women were carriers of Hemophilia A. This results should be significant to facilitate the hemophilia and prenatal diagnosis in tianjin area. The results of prenatal dignosis of two pregnant carriers were female, no-carriers.