【摘要】 目的 :研究中国汉族人群FⅧ基因第22内含子中 (CA)n(TC)n重复序列 (CA 22)的多态性。方法 :用聚合酶链反应 (PCR)和聚丙烯酰胺凝胶电泳 (PAGE)方法 ,检测74名中国汉族人共109条X染色体FⅧ基因内微卫星序列CA 22的长度多态性。结果 :中国汉族人群中该位点有4种等位片段 ,多态信息量 (polymorphismin formationcontent,PIC)为0 5202。应用该位点多态性对一血友病甲家系进行连锁分析 ,检出1名携带者。结论 :该位点为血友病甲的高多态遗传标志之一 ,对血友病甲的携带者检出和产前诊断具有重要参考价值更多还原

【Abstract】 To study the polymorphism of microsatellite repeat in F Ⅷ gene in Chinese Hans and its application for gene diagnosis Methods:The polymerase chain reaction(PCR)and polyacrylamide gel electrophoresis(PAGE)methods were used to examine the polymorphism of repeat of 109 X-chromosomes in 74 Chinese individuals Results:Four alleles corresponding to 24,25,26 and 27 dinucleotides were found at this locus The polymorphism information content(PIC) of this microsatellite repeat was 0 520 2 By using the linkage analysis of this locus,a family of hemophilia A was analyzed and a carrier in the family was detected Conclusion:This microsatellite repeat is a high polymorphic inheritance marker for carrier detection and prenatal diagnosis of hemophilia A更多还原