华东地区汉族群体20个插入缺失多态的群体遗传学研究及法医学应用  

Genetic study of 20 insertion/deletion polymorphisms in eastern Chinese Han population and forensic application

作　　者：江翔[1,2] 周旭科 曹正军 陈守恭 高玉振[1] 

机构地区：[1]苏州大学医学部法医学系,苏州215123 [2]上海交通大学医学院苏州九龙医院病理科 [3]浙江省诸暨市公安局 [4]江西省上饶市公安局刑警支队 [5]上饶市检查院技术处

出　　处：《南通大学学报（医学版）》2013年第1期9-12,共4页Journal of Nantong University(Medical sciences)

基　　金：国家自然科学基金资助项目(30800621;81171893)

摘　　要：目的:筛查适合华东汉族群体法医学应用的插入缺失多态并进行群体遗传学研究。方法:运用PCR技术结合聚丙烯酰胺凝胶电泳方法对筛选的插入缺失多态进行分型并通过统计分析获得其相关法医遗传学参数。结果:筛选出了20个适合华东汉族群体法医学应用的插入缺失多态位点,并获得了这些基因座的等位基因频率。该20个基因座都具有较好多态性,其中最小等位基因频率为0.108,经计算该20个基因座的累积个人识别机率为0.999 993 845,累积非父排除率为0.916。从20个插入缺失多态位点中我们进一步筛选出了11个最小等位基因频率>0.3的位点,对这11个具高信息量插入缺失位点进行进一步分析,结果显示11个插入缺失位点累积个人识别机率达到0.996 258 773,累积非父排除率达到0.814 27。结论:本研究获得的上述插入缺失多态位点等位基因频率丰富了华东汉族群体的群体遗传学资料,为插入缺失多态的法医学应用提供了候选的基因座。Objective： The aim of the present study was to screen the insertion/deletion polymorphisms（INDELs） which were suitable for forensic application in eastern Chinese Han population. Methods： Polymerase chain reaction（PCR） and non-de-naturing polyacrylamide gel electrophoresis were used to type the INDELs, and population genetic parameters of these poly-morphisms were obtained by the statistical analysis. Results： We obtained 20 polymorphisms which were suitable for forensic application in eastern Chinese Han population. Allelic frequencies were obtained for these polymorphisms. Our results re- vealed that all these INDELs were polymorphic in which the lowest minimal allelic frequencies（MAF） was 0.108. The com-bined discrimination probability（CDP） and combined exclusion probability（CEP） for the 20 INDELs were 0.999 993 845 and 0.916, respectively. The CDP and CEP for the 11 INDELs with MAF〉0.3 were calculated to be 0.996 258 773 and 0.814 27, respectively. Conclusion： Our study provided at least 11 candidates INDEL loci for forensic application in eastern Chinese Han population.

关 键 词：插入缺失多态性 群体遗传学 法医物证学 华东汉族群体 

分 类 号：Q75[生物学—分子生物学]