摘要
报告了血友病6个家系的调查,共作40人KPTT、Ⅷ:C及VWF:Ag测定,36人DNA限制性片段长度多态性(RFLP)基因连锁分析及2名携带者孕妇进行产前诊断。
Six families of hemophilia A patients were investigated.KPTT, VIII: C andVWF: Ag was determined in 40 cases. RFLP by DNA linkage analysis was done in 36cases. Prenatal diagnosis was performed in two pregnant carriers.
关键词
血友病
家族
携带者
杂合子测定
factorⅧ deficiency
heterozygote detection
RFLP
family
