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长沙汉族人群18个常染色体STR基因座的遗传多态性

Genetic Polymorphisms of 18 Autosomal STR loci in Changsha Han Population.

作者信息

Sun J S, Tian Q H, Zhao L, Wang J F, Bi J, Shi M S

机构信息

Institute of Forensic Science, Changsha Public Security Bureau, Changsha 410000, China.

Key Laboratory of Evidence Science, Ministry of Education, China University of Political Science and Law, Beijing 100088, China.

出版信息

Fa Yi Xue Za Zhi. 2018 Oct;34(5):526-531. doi: 10.12116/j.issn.1004-5619.2018.05.018. Epub 2018 Oct 25.

DOI:10.12116/j.issn.1004-5619.2018.05.018
PMID:30468057
Abstract

OBJECTIVES

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 GoldenyeDNA 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 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 (PE) and probability of exclusion in duo cases (PE) 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 (CPE) and cumulative probability of exclusion in duo cases (CPE) 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 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.

CONCLUSIONS

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.

摘要

目的

研究长沙汉族人群18个常染色体短串联重复序列(STR)基因座的遗传多态性,探讨群体间遗传关系,并评估其在法医学中的应用价值。

方法

采用GoldeneyeDNA ID System BASIC对2004名长沙汉族无关个体的DNA进行扩增,PCR产物用3130xl遗传分析仪进行电泳分析,随后用GeneMapper v3.2分析等位基因片段大小。对18个STR基因座的频率数据及法医学遗传参数[观察杂合度(Ho)、期望杂合度(He)、鉴别力(DP)和多态信息含量(PIC)]进行统计学分析。用Cervus 3.0计算总鉴别概率(TDP)、三联体案件排除概率(PE)和二联体案件排除概率(PE)。用Arlequin v3.5检测基因座的Hardy-Weinberg平衡和连锁不平衡。将结果与不同种族和地区其他群体的现有数据进行比较。

结果

长沙汉族人群各基因座的鉴别力(DP)和多态信息含量(PIC)分别为0.783 6~0.987 9和0.549 4~0.914 5。TDP、三联体案件累积排除概率(CPE)和二联体案件累积排除概率(CPE)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氏遗传距离,长沙汉族与湖南汉族群体间的遗传距离最小(0.014 1),而长沙汉族与新疆哈萨克族群体间的遗传距离最大(0.041 8)。

结论

18个STR基因座在长沙汉族人群中显示出丰富的遗传多态性。研究不同群体间的遗传多样性对探讨其起源、迁徙及相互关系具有重要意义。

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