摘要
目的为了探讨适合温州地区人群的多态性位点,提高甲型血友病基因诊断效率,在温州地区内对FⅧ基因18内含子上的多态性位点BCL Ⅰ的分布情况进行检测。方法用聚合酶链反应(PCR)和聚丙烯酰胺凝胶电泳的方法,检测温州地区男女性各96名的288条X染色体。结果温州地区汉族人群BCL Ⅰ遗传多态性位点基因频率为34.38%,女性杂合子频率为43.75%,多态信息量(PIC)为0.451 2。结论该位点在温州地区汉族人群中有足够的信息量,为甲型血友病的高多态遗传标志之一,可应用于该地区甲型血友病携带者筛查和产前诊断。
Objective In order to find the polymorphism site applicable to efficient genetic diagnosis on Haemophilia A in Hart Chinese Population in Wenzhou. Methods With the method of polymerase chain reaction （PCR） and polyacrylamide gel electrophoresis （PAGE）, 288 of X chromosomes from 96 men and 96 women were detected on the polymorphism of BCL Ⅰ in the intron 18 of FV Ⅲ gene. Results The gene frequency of the polymorphie site BCL Ⅰ was 34.38% in Hart Chinese population in Wenzhou. 43.75% women were heterozygous and the polymorphism information content （PIC） was 0.4512. Conclusion For Han Chinese population in Wenzhou, the BCL Ⅰ genetic site has enough information, being one of the genetic markers with high polymorphism, applicable to the screening for earrier and prenatal diagnosis of Haemophilia A in Wenzhou.
出处
《中国慢性病预防与控制》
CAS
2008年第6期617-618,共2页
Chinese Journal of Prevention and Control of Chronic Diseases
基金
温州市科技局基金项目(Y2004B002)
