北京汉族群体30个常染色体InDel位点群体遗传学及法医学研究
收稿日期: 2013-07-16
修回日期: 2013-09-27
网络出版日期: 2013-11-25
基金资助
教育部新世纪优秀人才项目(编号：NCET-10-0773), 国家自然科学基金面上项目(编号：81172902), 中组部北京市优秀人才项目(编号：2012D002023000002)和中国政法大学青年教师学术创新团队项目资助
Genetic polymorphism and forensic application of 30 InDel loci of Han population in Beijing
Received date: 2013-07-16
Revised date: 2013-09-27
Online published: 2013-11-25
为了调查30个 InDel 位点在中国北京汉族人群中的群体遗传学数据, 并评估其法医学应用价值, 文章采集210名北京汉族无关健康个体外周血样, 提取样本DNA, 采用Investigator ® DIPplex 体系对HLD77等30个InDel 位点进行复合扩增, ABI3130 XL 遗传分析仪进行基因分型, 计算常用法医学参数, 分析群体遗传差异。经 Bonferroni 校正, 30个InDel 位点不存在连锁不平衡现象, 基因型分布符合Hardy-Weinberg 平衡; 各位点DP值为0.2690~0.6330, 累积个体识别力(TDP)为0.999999999985; 三联体累积非父排除率(CPEtrio)为0.98771049, 二联体累积非父排除率(CPEduo)为0.94579456。32例 STR 基因座发生突变的家系样本调查证实上述 InDel 位点未发现突变。结果表明, Investigator® DIPplex 试剂盒中包含的30个InDel 位点在北京汉族群体中具有较好的遗传多态性, 在 STR 存在突变及微量DNA检材等特殊检案中可作为有效的补充检测体系。
关键词： 插入缺失多态性; Investigator® DIPplex; 基因多态性; 法医学
百茹峰 姜立喆 张中 石美森 . 北京汉族群体30个常染色体InDel位点群体遗传学及法医学研究[J]. 遗传, 2013 , 35(12) : 1368 -1376 . DOI: 10.3724/SP.J.1005.2013.01368
To study the genetic diversities of 30 insertion-deletion (InDel) polymorphisms loci of Han population in Beijing, and to evaluate their forensic application, 210 unrelated healthy individuals of Han population in Beijing were investigated to determine the distributions of allele frequencies by using Investigator® DIP system. The PCR products were detected with ABI 3130 XL Genetic Analyzer. Forensic parameters were calculated with relevant statistical analysis software. As a result, after the Bonferroni correction at a 95% significance level, there were no significant departures from Hardy-Weinberg equilibrium or significant linkage disequilibrium between the loci. The power of discrimination (DP) varies between 0.2690 (HLD118) and 0.6330 (HLD45), and the combined discrimination power (TDP) for the 30 InDel loci is 0.999999999985. The combined power of exclusion was 0.98771049 in trio cases (CPEtrio) and 0.94579456 in duo cases (CPEduo). The parentage testing of 32 cases revealed no mutations happened to 30 InDel loci. Multiplex detection of the 30 InDel loci revealed a highly polymorphic genetic distribution in Beijing Han population, which represents a complementary tool in human identification studies, especially in challenging DNA cases.
[1] Weber JL, David D, Heil J, Fan Y, Zhao CF, Marth G. Human diallelic insertion/deletion polymorphisms. Am J Hum Genet, 2002, 71(4): 854–862. <\p>
[2] Sjödin P, Bataillon T, Schierup MH. Insertion and deletion processes in recent human history. PLoS ONE, 2010, 5(1): e8650. <\p>
[3] Mills RE, Luttig CT, Larkins CE, Beauchamp A, Tsui C, Pittard WS, Devine SE. An initial map of insertion and deletion (INDEL) variation in the human genome. Genome Res, 2006, 16(9): 1182–1190. <\p>
[4] Manta F, Caiafa A, Pereira R, Silva D, Amorim A, Carvalho EF, Gusmão L. Indel markers: Genetic diversity of 38 polymorphisms in Brazilian populations and appli-cation in a paternity investigation with post mortem mate-rial. Forensic Sci Int Genet, 2012, 6(5): 658–661. <\p>
[5] Santos NPC, Ribeiro-Rodrigues EM, Ribeiro-Dos-Santos ÂKC, Pereira R, Gusmão L, Amorim A, Guerreiro JF, Zago MA, Matte C, Hutz MH, Santos SEB. Assessing in-dividual interethnic admixture and population substructure using a 48-insertion-deletion (INSEL) ancestry-informative marker (AIM) panel. Hum Mutat, 2010, 31(2): 184– 190. <\p>
[6] Romanini C, Catelli ML, Borosky A, Pereira R, Romero M, Salado Puerto M, Phillips C, Fondevila M, Freire A, Santos C, Carracedo A, Lareu MV, Gusmao L, Vullo CM. Typing short amplicon binary polymorphisms: Supple-mentary SNP and Indel genetic information in the analysis of highly degraded skeletal remains. Forensic Sci Int Genet, 2012, 6(4): 469–476. <\p>
[7] www.qiagen.com.Population_data_for_Investigator_DIPplex. <\p>
[8] Kis Z, Zalán A, Völgyi A, Kozma Z, Domján L, Pamjav H. Genome deletion and insertion polymorphisms (DIPs) in the Hungarian population. Forensic Sci Int Genet, 2012, 6(5): e125–e126. <\p>
[9] Zidkova A, Horinek A, Kebrdlova V, Korabecna M. Ap-plication of the new insertion–deletion polymorphism kit for forensic identification and parentage testing on the Czech population. Int J Legal Med, 2013, 127(1): 7–10. <\p>
[10] Larue BL, Ge JY, King JL, Budowle B. A validation study of the Qiagen Investigator DIPplex (R) kit; an INDEL- based assay for human identification. Int J Legal Med, 2012, 126(4): 533–540. <\p>
[11] da Costa Francez PA, Rodrigues EMR, de Velasco AM, dos Santos SE. Insertion-deletion polymorphisms-utilization on forensic analysis. Int J Legal Med, 2012, 126(4): 491– 496. <\p>
[12] 洪丽, 王小广, 刘素娟, 张胤鸣, 欧雪玲, 陈勇, 陈维红, 孙宏钰. 30个插入/缺失多态性位点在中国广东汉族人群中的遗传多态性. 中山大学学报(医学科学版), 2013, 34(2): 299–304. <\p>
[13] 赵书民, 张素华, 李成涛. InDel_typer30: 用于中国5个主要民族DNA鉴定的多重PCR系统. 法医学杂志, 2010, 26(5): 343–348, 356. <\p>
[14] Li CT, Zhang SH, Zhao SM. Genetic analysis of 30 InDel markers for forensic use in five different Chinese popula-tions. Genet Mol Res, 2011, 10(2): 964–979. <\p>
[15] Lu DJ, Liu QL, Wu WW, Zhao H. Mutation analysis of 24 short tandem repeats in Chinese Han population. Int J Le-gal Med, 2012, 126(2): 331–335. <\p>
[16] 李海霞, 孙宏钰, 张何, 陆惠玲, 吕德坚. 3个STR基因座同时突变的亲子鉴定案1例. 法医学杂志, 2009, 25(4): 319–320. <\p>
[17] 李茜, 程良红, 魏天莉, 邓志辉. 亲子鉴定中STR基因座的基因突变分析. 中国法医学杂志, 2008, 23(6): 394–396. <\p>
[18] Bär W, Kratzer A, Mächler M, Schmid W. Postmortem stability of DNA. Forensic Sci Int, 1988, 39(1): 59–70. <\p>
[19] Alaedini R, Walsh SJ, Abbas A. Forensic implications of genetic analyses from degraded DNA-a review. Forensic Sci Int Genet, 2010, 4(3): 148–157. <\p>
[20] Alonso A, Andelinovic S, Martín P, Sutlovic D, Erceg I, Huffine E, de Simón LF, Albarrán C, Definis-Gojanovic M, Fernández-Rodriguez A, García P, Drmic I, Rezic B, Kuret S, Sancho M, Primorac D. DNA typing from skeletal re-mains: e
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