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在甲型血友病携带者诊断和产前诊断中．目前多采用PCR／RFLPs分析，酶解彻底性问题是酶谱分析的关键。在本研究中，我们应用PCR技术选择扩增凝血因子Ⅷ（FⅧ）基因内含HindⅢ和BclⅠ多态性酶切位点的特异片段，酶解后分析它们的多态信息量（PIC）。结果HindⅢ的PIC为0．385，BclⅠ为0．365，而且两者存在高度连锁不平衡关系。其中HindⅢ扩增片段中含两个酶切位点，一个是固定的，可作为内参照，另一个是多态性，因有自身对照，酶解就不存在不彻底问题，结果准确可靠。在30名受检女性中，HindⅢ杂合率为43．3％，Bcll为40％；15个家系中有4个既可用Bcll又可以用HindⅢ多态位点进行分析，对其中8名可疑携带者进行基因分析诊断出基因携带者3个。我们的研究表明，HindⅢ多态性酶切位点是PCR／RFLPs方法中值得首先考虑的一个酶切位点。
Hemophilia A carrier diagnosis and prenatal diagnosis. The current use of PCR / RFLPs analysis, enzymatic thoroughness is the key to zymogram analysis. In this study, we used PCR to amplify specific fragments of HindIII and BclI polymorphisms in Factor Ⅷ (FⅧ) gene. After digestion, we analyzed their polymorphic information (PIC). Results PIC of Hind Ⅲ was 0.385, Bcl Ⅰ was 0.365, and there was a highly linkage disequilibrium between the two. Hind Ⅲ amplified fragment containing two restriction sites, one is fixed, can be used as an internal reference, the other is polymorphic, because of its own control, enzymatic hydrolysis does not exist incomplete problem, the result is accurate and reliable. Among the 30 subjects tested, the Hind III heterozygosity was 43.3% and the Bcll was 40%. Four out of 15 pedigrees were analyzed using Bcll and Hind Ⅲ polymorphisms. Of these, eight suspicious carriers Genetic analysis of gene carriers were diagnosed 3. Our research shows that the Hind Ⅲ polymorphism restriction site is a cleavage site worthy of first consideration in the PCR / RFLPs method.