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法医学杂志 2018, Vol. 34 Issue (5) :526-531,537    DOI: 10.12116/j.issn.1004-5619.2018.05.018
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长沙汉族18个常染色体STR基因座的遗传多态性
孙佳胜1,田庆花2,赵  霖1,王俊方2,毕  洁3,石美森2
1. 长沙市公安局刑事侦查支队技术大队,湖南 长沙 410000; 2. 中国政法大学 证据科学教育部重点实验室,北京 100088; 3. 北京明正司法鉴定中心,北京 100191
Genetic Polymorphisms of 18 Autosomal STR loci in Changsha Han Population
SUN Jia-sheng1, TIAN Qing-hua2, ZHAO Lin1, WANG Jun-fang2, BI Jie3, SHI Mei-sen2
1. Institute of Forensic Science, Changsha Public Security Bureau, Changsha 410000, China; 2. Key Laboratory of Evidence Science, Ministry of Education, China University of Political Science and Law, Beijing 100088, China; 3. Beijing Mingzheng Forensic Identification Center, Beijing 100191, China

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摘要 目的 调查长沙汉族群体18个常染色体短串联重复(short tandem repeat,STR)序列遗传多态性,探讨其群体遗传学关系及法医学应用价值。 方法 应用Goldeneye?誖DNA身份鉴定系统BASIC,对长沙地区2 004名汉族无关个体血样DNA进行扩增,3130xl基因分析仪电泳分析,GeneMapper?誖ID v3.2软件分析等位基因片段大小。统计分析18个STR基因座的频率数据和群体遗传学参数(观察杂合度、期望杂合度、个体识别率、多态信息含量),采用Cervus 3.0计算累积个体识别率、三联体非父排除率和二联体非父排除率,采用Arlequin v3.5进行各基因座Hardy-Weinberg平衡及连锁不平衡检验,并与其他地区已有人群数据进行比较。 结果 长沙汉族各基因座个体识别率为0.783 6~0.987 9,多态信息含量为0.549 4~0.914 5。累积个体识别率、三联体非父排除率和二联体非父排除率分别为0.999 999 999 999 999 999 999 865 2、0.999 999 979和0.999 988 325。根据Nei的DA遗传距离发现,长沙汉族与湖南汉族遗传距离最近(0.014 1),与新疆哈萨克族的遗传距离相对最远(0.041 8)。 结论 这18个STR基因座在长沙汉族群体中具有丰富的遗传多态性。研究不同民族群体的遗传多态性对了解他们的起源、迁移以及相互关系有重要的意义。
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孙佳胜
田庆花
赵霖
关键词法医遗传学;多态现象   遗传;短串联重复;常染色体;遗传距离;汉族;长沙     
Abstract: Objective To investigate the genetic polymorphisms of 18 autosomal short tandem repeats (STR) loci in Changsha Han population, and explore the population genetic relationships and evaluate its application value in forensic medicine. Methods The DNA of 2 004 unrelated individuals in Changsha Han population were amplified using Goldeneye?誖DNA ID System BASIC, and the PCR products were analyzed by electrophoresis using 3130xl genetic analyzer. The fragment sizes of alleles were analyzed subsequently by GeneMapper?誖ID v3.2. The frequency data and forensic genetic parameters [observed heterozygosity (Ho), expected heterozygosity (He), power of discrimination (DP) and polymorphic information content (PIC)] of 18 STR loci were statistically analyzed. Total probability of discrimination (TDP), probability of exclusion in trio cases (PEtrio) and probability of exclusion in duo cases (PEduo) were calculated by Cervus 3.0. Hardy-Weinberg equilibrium and linkage disequilibrium of the loci were detected by Arlequin v3.5. The results were compared with the available data of other populations from different races and regions. Results The power of discrimination (DP), and the polymorphic information content (PIC) of each locus of Changsha Han population ranged from 0.783 6 to 0.987 9 and 0.549 4 to 0.914 5, respectively. The TDP, cumulative probability of exclusion in trio cases (CPEtrio) and cumulative probability of exclusion in duo cases (CPEduo) were 0.999 999 999 999 999 999 999 865 2, 0.999 999 979 and 0.999 988 325, respectively. According to the Nei’s DA genetic distance, the genetic distance between Changsha Han and Hunan Han populations was the smallest (0.014 1), while it was the largest (0.041 8) between Changsha Han and Xinjiang Kazakh populations. Conclusion The 18 STR loci shows abundant genetic polymorphisms in Changsha Han population. The study of genetic diversity among different populations has an important meaning for the research of their origins, migrations and their relationships.
Keywordsforensic genetics   polymorphism, genetic   short tandem repeat   autosome   genetic distance   Han population   Changsha     
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Corresponding Authors: 通信作者:毕洁,女,主检法医师,主要从事法医物证学检验鉴定;E-mail:bijie0403@163.com 通信作者:石美森,女,教授,主要从事法医物证学检验鉴定、群体遗传学研究;E-mail:shimeisen2000@163.com   
About author: 孙佳胜(1988—),男,主检法医师,主要从事法医物证学、法医病理学检验鉴定;E-mail:Jiasheng_sun1988@126.com
引用本文:   
孙佳胜,田庆花,赵霖,等.长沙汉族18个常染色体STR基因座的遗传多态性[J]  法医学杂志, 2018,34(5): 526-531,537
SUN Jia-sheng, TIAN Qing-hua, ZHAO Lin,et al..Genetic Polymorphisms of 18 Autosomal STR loci in Changsha Han Population[J]  法医学杂志, 2018,34(5): 526-531,537
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