西藏藏族群体30个常染色体InDel位点的群体遗传学研究  

Genetic polymorphisms of 30 InDel loci in Chinese Tibetan ethnic population residing in Tibet

作　　者：百茹峰[1,2] 刘亚举 姜立喆 吕小娇[2] 石美森[2] 

机构地区：[1]司法文明协同创新中心,北京100088 [2]中国政法大学证据科学教育部重点实验室 [3]河南省许昌市公安局刑事科学技术研究所

出　　处：《中华医学遗传学杂志》2015年第3期410-414,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金面上项目（81172902,81373241）;教育部新世纪优秀人才项目（NCET-10-0773）;中国博士后科学基金（2013M530371）

摘　　要：目的 调查Investigator（R） DIPplex试剂盒中所包含的30个插入缺失多态性（insertion and deletion polymorphism,InDel）位点在西藏藏族人群中的群体遗传学数据,探讨其法医学应用价值.方法 应用Investigator（R） DIPplex试剂盒对西藏地区226名藏族无关个体外周血样进行30个InDel位点分型检测,统计分析各位点的频率数据、群体遗传学参数,并与其他地区人群已有数据进行比较.结果 经Bonferroni修正,除HLD114外,29个InDel位点基因型分布在藏族群体中符合Hardy-Weinberg平衡定律;各位点不存在连锁不平衡现象.各位点平均杂合度为0.4125,平均个体识别率为0.5618,平均多态信息含量为0.3280,累积个体识别率为0.999 999 999 990;30个Indel位点的三联体累积非父排除率为0.987 849 91,二联体累积非父排除率为0.949 771 25.藏族与北京汉族的遗传距离最小（0.0068）,与新疆维吾尔族遗传距离最大（0.0215）.结论 Investigator（R） DIPplex试剂盒中包含的30个InDel位点在西藏藏族群体中具有较好的遗传多态性.Objective To analyze the genetic data of 30 insertion and deletion polymorphisms （InDel） loci included in an Investigator（R） DIPplex diagnostic kit,and to evaluate the forensic application in ethnic Tibetan population from China.Methods By detecting 226 unrelated individuals with the Investigator（R） DIPplex kit,allelic frequencies and population genetics parameters of the 30 InDels were statistically analyzed and compared with available data derived from other populations from various regions.Results After the Bonferroni correction at a 95% significance level （P=0.0017）,no significant departures from the Hardy-Weinberg equilibrium were observed except for the HLD114 locus.Linkage disequilibrium test showed no significant allelic association between all 30 loci after the Bonferroni＆#39;s correction.The average heterozygosity （Ho） of all loci was 0.4125,the mean discrimination power （DP） was 0.5618,the mean polymorphism information content （PIC） was 0.3280,and the combined discrimination power （TDP） was 0.999 999 999 990.The combined power of exclusion of all loci was 0.987 849 91 in trio cases and 0.949 771 25 in duo cases.Genetic distance between Tibetan and Han from Beijing was minimum （0.0068） in the 5 populations,while genetic distance between Tibetan and Uygur was maximal （0.0215）.Conclusion Multiplex detection has revealed that these 30 InDel loci have a moderate distribution of genetic polymorphism among ethnic Tibetan group residing in Tibet,China.

关 键 词：插入缺失多态性 遗传多态性 藏族 

分 类 号：R394[医药卫生—医学遗传学]