贵州黔南地区汉族人群18个STR基因座的遗传多态性
张建1,2, 李红卫2, 王乐1, 封宇2, 姚伊人1, 杨帆1, 陆新3, 孔智明3, 白雪1, 赵兴春1
1. 公安部物证鉴定中心,北京 100038
2. 重庆市公安局刑警总队,重庆 400021
3. 黔南州公安局刑警支队,贵州 都匀 558000

作者简介:张建(1982—),男,安徽蒙城人,主检法医师,硕士,研究方向为法医遗传学。E-mail:j_zhang@yeah.net

摘要

目的 调查贵州黔南地区汉族人群D5S818等18个基因座的遗传多态性。方法 采用国产DNATyperTM19荧光标记试剂盒,获得1104名黔南地区汉族无关个体18个STR基因座的DNA分型,并应用统计软件计算等位基因的分布频率等群体遗传学数据。结果 18个STR基因座的基因型分布均符合Hardy-Weinberg平衡(P > 0.05),杂合度(H)在0.622~0.915之间,匹配概率(Pm)在0.017~0.220之间,个体识别概率(DP)在0.780~0.983之间,多态信息含量(PIC)在0.540~0.900之间,非父排除概率(PE)值在0.318~0.826之间。 结论 18个STR基因座具有遗传多态性,在该地区汉族人群的多态性研究中具有较高的应用价值。

关键词: 法医遗传学; 短串联重复序列; DNATyperTM 19; 遗传多态性; 黔南汉族
中图分类号:DF795.2 文献标志码:A 文章编号:1008-3650(2015)01-0084-03 doi: 10.16467/j.1008-3650.2015.01.021
Genetic Polymorphism of 18 STR Loci of Han Population in Qiannan
ZHANG Jian1,2, LI Hong-wei2, WANG Le1, FENG Yu2, YAO Yi-ren1, YANG Fan1, LU Xin3, KONG Zhi-ming3, BAI Xue1, ZHAO Xing-chun1
1. Institute of Forensic Science, Ministry of Public Security, Beijing 100038, China
2. Chongqing Public Security Bureau, Chongqing 400021, China
3. Qiannan Public Security Bureau, Guizhou Duyun 558000, China
Abstract

Objective To investigate the polymorphism of 18 short tandem repeats (STR) loci of Qiannan Han population.Methods Using domestic DNATyperTM19 fluorescent labeling kit, and combining with PCR amplification and automated fluorescent detection of capillary electrophoresis, we carried out the DNA typing of 18 STR loci of 1, 104 unrelated individuals of Han population from Qiannan in Guizhou, China, and conducted statistical analysis to calculate the distribution of allelic frequency and other population genetics data.Results Genotypes of the 18 STR loci were in line with Hardy-Weinberg equilibrium (P > 0.05). Statistical analysis showed that the population genetics parameters of the 18 STR loci were as follows: heterozygosity (H) ranging from 0.622 to 0.915, matching probability (Pm) 0.017 to 0.220, power of discrimination (DP) 0.780 to 0.983, polymorphism information content (PIC) 0.540 to 0.900, and power of exclusion (PE) 0.318 to 0.826. In the 18 STR loci, the polymorphism indicators of PentaE were the highest, but those of the three of D3S1358, TH01 and TPOX the lowest.Conclusions This investigation demonstrates that allelic frequency of these 18 STR loci is well-distributed and high of polymorphism in Qiannan Han population.

Keyword: forensic genetics; short tandem repeats (STR); DNATyperTM 19 kit; genetic polymorphism; Qiannan Han population

本文应用DNATyperTM19直接扩增检测试剂盒(公安部物证鉴定中心), 对贵州黔南地区1104名汉族无关个体进行检验, 获得了该地区汉族群体18个STR基因座(D18S51、D21S11、D3S1358、FGA、D8S1179、vWA、CSF1PO、D16S539、D7S820、D13S317、D5S818、D2S1338、D19S433、D12S391、TPOX、TH01、Penta E和D6S1043)的等位基因频率及遗传学参数分布情况(见表1表2)。经χ 2检验, 所有基因座型频率均符合Hardy-Weinberg平衡(P > 0.05)[1]

表1 黔南地区汉族人群18个STR基因座等位基因频率(n=1104) Table 1 Qiannan Han population allelic frequencies of 18 STR loci (n=1104)
表2 黔南地区汉族人群18个STR基因座法医遗传学参数(n=1104) Table 2 Qiannan Han population genetics parameters of 18 STR loci (n=1104)

表2可知, 18个STR基因座在黔南地区汉族群体的杂合度(H)在0.622~0.915之间, 匹配概率(Pm)在0.017~0.220之间, 个体识别概率(DP)在0.780~0.983之间, 多态信息含量(PIC)在0.540~0.900之间, 非父排除概率(PE)值在0.318~0.826之间。计算18个STR基因座的累积匹配概率(PM)为3.3× 10-22, 累积个体识别率(TDP)为0.999 999 999 999 999 999 999 67, 累积非父排除概率(CPE)为0.999 999 962 9。通常认为DP大于0.9, H大于0.7的基因座具有高识别率[2], 由表2可以看出, 除D3S1358、TH01及TPOX 这3个基因座在该地区汉族群体中的遗传多态性稍低外, 其余15个STR基因座均具有高度的遗传多态性。实验结果同时表明, 这18个STR基因座联合应用具有高度的个体识别和亲权鉴定能力, 适合于黔南地区汉族群体的个体识别和亲子鉴定。本文的调查数据可以作为群体遗传学中黔南地区汉族群体的有效补充。

The authors have declared that no competing interests exist.

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