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目的 :研究华东地区正常人群DXS15位点短串联重复序列 (ShortTandemRepeats ,STR)的多态分布。 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 10 6名华东地区汉族人共 15 6条X染色体DXS15位点STR长度变化。结果 :华东地区汉族人群该位点有 9种等位片段 ,多态信息量 (polymorphisminformationcontent,PIC)为 0 .85。结论 :该位点为血友病甲的高多态遗传标记之一 ,对血友病甲的携带者诊断和产前诊断具有重要价值。
OBJECTIVE: To study the polymorphism distribution of short tandem repeats (STR) at DXS15 locus in the eastern part of China. Methods: The length of STR of DXS15 locus in 15 6 X chromosomes from 106 East Han Chinese patients was detected by polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis. Results: There were 9 alleles at this site in Han population of East China. The polymorphism information content (PIC) was 0.85. CONCLUSION: This locus is one of the high polymorphic genetic markers of hemophilia A, which is of great value in the diagnosis and prenatal diagnosis of hemophilia A carriers.