中国汉族人群FⅧ基因内微卫星序列的多态性研究

Study on the polymorphism of microsatellite repeat within FⅧ gene in chinese Han

目的 研究中国汉族人群FⅧ基因 13内含子 (CA)n重复序列 (CA 13)的多态性。方法 用聚合酶链反应 (PCR)和聚丙烯酰胺凝胶电泳 (测序胶 )的方法 ,检测 6 9名中国汉族人共 10 3条X染色体的FⅧ基因CA 13的长度变化。结果 中国汉族人群中该位点有 7种等位片段 ,多态信息量 (PIC)为 5 0 2 2 %。结论 该位点为甲型血友病的高多态遗传标记之一 。

Objective To study the polymorphism of intron 13 (CA)n repeat within FⅧ gene in Chinese Han.Methods The polymerase chain reaction(PCR) and polyacrylamide gel electrophoresis (PAGE) methods were used to examine the variability of the repeat in 69 Chinese Han individuals(103 X chromosomes).Results Seven alleles corresponding to 21,22,23,24,25,26 and 27 dinucleotides were found at this locus.The polymorphism information content(PIC) of this microsatellite repeat was 50 22%.Conclusion This microsatellite repeat is a high polymorphic inheritance marker in carrier detection and prenatal diagnosis of haemophilia A.