因子Ⅷ基因内二核苷酸重复序列在检测血友病A携带者中的意义

The significance of nucleotide repeat sequences in FⅧ gene for detecting hemophilia A carriers

目的 应用FⅧ基因内含子 13(CA)n及内含子 2 2 (GT)n(AG)n两位点多态性的单倍体分析 ,对血友病A(HA)家系进行携带者的检测。方法 采用PCR法扩增FⅧ基因内 13(CA)n及 2 2(GT)n(AG)n的多态性片段 (Amp FLP) ,银染色法显示扩增结果。 结果 35个HA家庭中 11个有家族史 ,此 11个HA家系有 2 1位女性 (包括 1例女性患者 ) ,检出携带者 14人 ,正常 4人 ,不能确定 3人 ,8个家系可用此法诊断 ,可诊断率 72 .7%。结论 银染色法与Amp FLP结合 ,在保证HA携带者检出结果可靠的同时 ,更具有省时、操作简单。

Objective To detect the carriers in hemophilia A(HA) families by haplotype analysis of the microsatellite polymorphisms at intron 13 and 22[22(GT)n(AG)n] in the factor Ⅷ (FⅧ) gene. Method Multi PCR amplification of 13(CA)n and 22(GT)n(AG)n combined with silver staining were used. Result In 35 HA families, 11 had HA history. There were 21 female members in the 11 HA families and all of them were subjected to molecular study. Fourteen of the 21 females were confirmed to be carriers and approximately 72 7%(8 of 11) of these families were informative. Conclusions Besides the reliable detection of HA carriers, multi PCR combined with silver staining in HA analysis has the advantages of time saving, simplicity for performing and no radiation contamination.