华东地区正常人群DXS15位点短串联重复序列多态分布研究  

Study on the Polymorphism Distribution of DXS15 STR in Normal Individuals in Eastern Region of Chinese

作　　者：吴朝阳 鲍素兰[2] 刘木根[3] 许文林 程建军[4] 

机构地区：[1]江苏大学附属镇江市第一人民医院血液科,江苏镇江212002 [2]同济大学校医院血液科,上海200433 [3]复旦大学遗传研究所,上海200433 [4]江苏大学医学院,江苏镇江212001

出　　处：《江苏大学学报（医学版）》2003年第3期196-198,共3页Journal of Jiangsu University：Medicine Edition

基　　金：江苏省教育厅自然科学基金项目 ( 99KJD3 2 0 0 0 8)

摘　　要：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 of short tandem repeats (STR) in DXS15 locus in normal individuals in eastern region of china. Methods: The polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis (PAGE) methods were used to examine the variability of the repeats in 106 chinese individuals (156 X(chromosomes). Results: Nine alleles corresponding to 2 (164bp) 3(162bp),4(160bp),5(158bp),6(156bp),7(154bp),8(152bp),9(150bp),10(148bp) were found at this locus. The polymorphism information content (PIC) of this STR is 0.85. Conclusion: This STR is a high polymorphic heredity marker and is important to detect the carrier or to get prenatal diagnosis of haemophilia A.

关 键 词：FⅧ基因 STR 多态 血友病甲 

分 类 号：R596.1[医药卫生—内科学]