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[江苏省汉族人群30个插入/缺失位点的基因多态性]

[Genetic Polymorphism of 30 InDel Loci in Han Population from Jiangsu Province].

作者信息

Pan M, Ju X B, Liu Y T, Cui H, Gu M, Zhou H Y

机构信息

Forensic Institution of Jiangsu Province Hospital, First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China.

出版信息

Fa Yi Xue Za Zhi. 2017 Dec;33(6):611-614. doi: 10.3969/j.issn.1004-5619.2017.06.009. Epub 2017 Dec 25.

DOI:10.3969/j.issn.1004-5619.2017.06.009
PMID:29441769
Abstract

OBJECTIVES

To investigate the genetic information of 30 insertion/deletion (InDel) loci in Han population from Jiangsu Province, and to explore the application values of Investigator® DIPplex kit for guiding the forensic analysis in Han population from Jiangsu Province.

METHODS

The autosomal InDel loci of 305 unrelated healthy Han individuals from Jiangsu Province were genotyped and analysed by Investigator® DIPplex kit, and the allelic frequencies and forensic parameters of 30 InDel loci were statistically analysed.

RESULTS

The distribution of 30 InDel loci in Han population from Jiangsu Province conformed to Hardy-Weinberg equilibrium. The minor allele frequencies of 21 InDel loci were above 0.3. The polymorphism information content ranged from 0.089 to 0.375, while the discrimination power distributed from 0.093 to 0.500. The paternity exclusion in duo cases and trio cases were 0.047-0.250 and 0.046-0.219, respectively. The linkage disequilibrium analysis of 30 InDel loci showed that all loci were independent from each other. The combined discrimination power was 1-7.369×10⁻⁸, whereas the combined mean exclusion chance in duo cases was 0.998 933 978, in trio cases was 0.997 806 392. The values were all less than 0.06 except HLD118 and other four loci, which showed small differences between groups.

CONCLUSIONS

The InDel loci of Investigator® DIPplex kit can be used as complementary genetic markers for the cases associated with forensic genetics.

摘要

目的

研究江苏省汉族人群30个插入/缺失(InDel)位点的遗传信息,探讨Investigator® DIPplex试剂盒在江苏省汉族人群法医学分析中的应用价值。

方法

采用Investigator® DIPplex试剂盒对305名江苏省无血缘关系的健康汉族个体的常染色体InDel位点进行基因分型和分析,并对30个InDel位点的等位基因频率和法医学参数进行统计学分析。

结果

30个InDel位点在江苏省汉族人群中的分布符合Hardy-Weinberg平衡。21个InDel位点的次要等位基因频率高于0.3。多态性信息含量范围为0.089至0.375,鉴别力分布为0.093至0.500。二联体和三联体的亲权排除率分别为0.047 - 0.250和0.046 - 0.219。对30个InDel位点的连锁不平衡分析表明,所有位点相互独立。联合鉴别力为1 - 7.369×10⁻⁸,而二联体的联合平均排除机会为0.998 933 978,三联体为0.997 806 392。除HLD118和其他四个位点外, 值均小于0.06,组间差异较小。

结论

Investigator® DIPplex试剂盒的InDel位点可作为法医遗传学相关案件的补充遗传标记。

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