本文首次对北京地区汉族人群的13个CODIS(Combined DNA index system)和26个非CODIS系统STR基因座的遗传多态性进行了研究,建立了北京地区汉族人群39个STR基因座的群体遗传多态性数据库并对其法医学应用价值进行了评价。39个STR基因座的基因型分布均符合Hardy-Weinberg平衡且各基因座之间均不存在连锁现象,个体鉴别力(Power of discrimination, DP)在0.7740~0.9818之间,期望杂合度(Expected heterozygosity, He)在0.6000~0.9350之间,多态性信息含量(Polymorphism information content, PIC)在0.5317~0.9047之间,非父排除率(Power of exclusion, PE)在0.2909~0.8673之间,累积个体鉴别力(Cumulative probability of discrimination, CDP)为0.999999999999999999999999999999999999999964971,累积非父排除率(Cumulative probability of exclusion, CPE)为0.999999999973878。另外,结合已公开报道的国内其他11个群体相应基因座的遗传资料,根据等位基因频率计算遗传距离,构建了系统发生树。本研究可为中国法医DNA数据库和群体遗传学数据库提供重要的基础数据,对北京地区汉族人群开展法医学个体识别、亲权鉴定和遗传学研究具有重要的意义。
In this study, we studied the genetic polymorphisms of short tandem repeat (STR) loci from 13 CODIS and 26 non-CODIS system in Beijing Han population for the first time, and established a database of 39 STR loci whose forensic parameters were further evaluated. Our results demonstrated no significant deviation from the Hardy-Weinberg equilibrium of 39 STR loci and no pairwise linkage disequilibrium between them. The power of discriminations, expected heterozygosity, polymorphic information content, and power of exclusion of 39 STR loci ranged from 0.7740-0.9818, 0.6000-0.9350, 0.5317-0.9047 and 0.2909-0.8673. The cumulated discrimination power and cumulative probability of exclusion were 0.999999999999999999999999999999999999999964971 and 0.999999999973878, respectively. Moreover, the genetic distance was calculated based on allele frequency and phylogenetic tree was built using STR loci data from Beijing Han and other 11 Chinese ethnic groups.This study provides important basic data for Chinese forensic DNA database and population genetics database, and has important significance in carrying out forensic individual identification, paternity testing, and population genetic study.
[1] Yang YR, Xie BB, Yan JW. Application of next-generation sequencing technology in forensic science. Genomics Proteomics Bioinformatics , 2014, 12(5): 190-197.
[2] Gulcher J. Microsatellite markers for linkage and association studies. Cold Spring Harb Protoc , 2012, 2012(4): 425-432.
[3] Meng HT, Zhang LP, Wu H, Yang CH, Chen JG, Wang Y, Yan JW, Wang HD, Zhang YD, Liu WJ, Zhu BF. Genetic diversities of 20 novel autosomal STRs in Chinese Xibe ethnic group and its genetic relationships with neighboring populations. Gene , 2014, 557(2): 222-228.
[4] Yuan GL, Shen CM, Wang HD, Liu WJ, Yang G, Yan JW, Qin HX, Xie T, Ran HY, Yuan J, Liu ZC, Zhu BF. Genetic data provided by 21 autosomal STR loci from Chinese Tujia ethnic group. Mol Biol Rep , 2012, 39(12): 10265-10271.
[5] Wang HD, Liao SX, Shen CM, Liu WJ, Yuan GL, Zhang YD, Yang G, Yan JW, Qin HX, Xie T. Allelic diversity distributions of 21 new autosomal short tandem repeat loci in Chinese Ningxia Han population. Forensic Sci Int Genet , 2013, 7(3): e78-e79.
[6] Deng YJ, Mi Y, Shen CM, Wang HD, Liu WJ, Yan JW, Pu HW, Chen X, Zhu BF. Polymorphic analysis of 21 new STR loci in Chinese Uigur group. Forensic Sci Int Genet, 2013, 7(3): e97-e98.
[7] Gao Y, Han JT, Shen CM, Wu H, Yuan GL, Zhao LJ, Yan JW, Meng HT, Zhang YD, Liu WJ, Wang HD, White RE, Wei X. Structural polymorphism analysis of Chinese Mongolian ethnic group revealed by a new STR panel: genetic relationship to other groups. Electrophoresis , 2014, 35(14): 2008-2013.
[8] Shen CM, Wang HD, Liu WJ, Fan SL, Yang G, Qin HX, Xie T, Li SB, Yan JW, Zhu BF. Allelic polymorphic investigation of 21 autosomal short tandem repeat loci in a Chinese Bai ethnic group. Leg Med (Tokyo) , 2013, 15(2): 109-113.
[9] Zhu BF, Shen CM, Wang HD, Yang G, Yan JW, Qin HX, Guo JX, Huang JF, Jing H, Liu XS. Genetic diversities of 21 non-CODIS autosomal STRs of a Chinese Tibetan ethnic minority group in Lhasa. Int J Legal Med , 2011, 125(4): 581-585.
[10] Teng Y, Zhang FX, Shen CM, Wang F, Wang HD, Yan JW, Liu JL. Genetic variation of new 21 autosomal short tandem repeat loci in a Chinese Salar ethnic group. Mol Biol Rep , 2012, 39(2): 1465-1470.
[11] Zhu BF, Pan F, Shen CM, Yan JW, Wang HD, Guo JX, Wang YL, Meng HT, Liu WJ, Zhang YD, Liu R, Jing H, Xu P. Population genetics and forensic efficiency of twenty-one novel microsatellite loci of Chinese Yi ethnic group. Electrophoresis , 2013, 34(24): 3345-3351.
[12] Yuan JY, Wang XY, Shen CM, Liu WJ, Yan JW, Wang HD, Pu HW, Wang YL, Yang G, Zhang YD, Meng HT, Jing H, Zhu BF. Genetic profile characterization and population study of 21 autosomal STR in Chinese Kazak ethnic minority group. Electrophoresis , 2014, 35(4): 503-510.
[13] Wang HD, Shen CM, Liu WJ, Zhang YD, Yang G, Yan JW, Qin HX, Zhu BF. Allelic frequency distributions of 21 non-combined DNA index system STR loci in a Russian ethnic minority group from Inner Mongolia, China. J Zhejiang Univ Sci B , 2013, 14(6): 533-540.
[14] 文波. Y染色体、mtDNA多态性与东亚人群的遗传结构[学位论文]. 上海: 复旦大学, 2004.
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