摘要
本文应用克隆化的凝血因子Ⅷ(下称FⅧ)基因cDNA及其旁侧的DNA片段作为探针,分析了123名中国正常人和22例血友病A患者的FⅧ基因及其旁侧的多态性位点Bcl Ⅰ/18e,Xbal/221,MspI/St14和BgI I/DX13。获得了中国人上述4个位点的RFLP资料,并应用RFLP连锁分析对2例血友病A高危妊娠进行了产前诊断。
Four RFLP sites (Bcl Ⅰ/18e, Xba Ⅰ/22i, Msp Ⅰ/St 14 and Bgl Ⅱ/DX13) located within or tightly linked to the factor Ⅷ gene were analysed with the cloned factor Ⅷ cDNA and DNA fragments as probes in 123 normal Chinese and 22 unrelated hemophilia A patients. The RFLP frequencies of the factor Ⅷ gene in the hemophilia A patients are not significantly different from those of the normal Chinese, but obviously different from those of Caucasian. By using RFLP linkage analysis, 2 fetuses at risk of hemophilia A were diagnosed, identifying one fetus as normal female fetus and the other as female carrier for hemophilia A gene.
出处
《上海医学》
CAS
CSCD
北大核心
1989年第7期373-377,共5页
Shanghai Medical Journal
