济宁地区汉族人群16个Y-STR基因座遗传多态性

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孙庆东, 侯伟光. 济宁地区汉族人群16个Y-STR基因座遗传多态性[J]. 刑事技术,2015,40(5): 424-425
SUN Qingdong, HOU Weiguang. Genetic Polymorphism of 16 Y-STR Loci in Han Population in Jining Area[J]. Forensic Science and Technology,2015,40(5): 424-425 复制到剪切板

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济宁地区汉族人群16个Y-STR基因座遗传多态性

孙庆东¹, 侯伟光²

1.山东省公安厅刑事侦查局,济南 250000

2.济南铁路公安局刑事技术处,济南 250000

作者简介：孙庆东(1974—),男,山东乳山人,主任法医师,学士,研究方向为法医遗传学。 E-mail: sqd007@163.com

摘要

应用Y-filer荧光标记复合扩增试剂盒对济宁地区5585名汉族男性个体血样 DNA进行分型, 统计分析16个Y-STR基因座的遗传学参数, DYS391、DYS389I、DYS439、DYS389II、DYS438、DYS456、DYS458、DYS437、DYS635、DYS448、Y_GATA_H4、DYS19、DYS393、DYS390、DYS392、DYS385a/b基因座分别检出5~13种等位基因,DYS385a/b基因座共检出99个单倍型。基因座频率分布在0.0002~0.7560之间,基因多样性（GD）分布在0.3972~0.9634之间。16个Y-STR基因座在济宁汉族群体具有丰富的遗传多态性,可用于群体遗传学及法医学研究。

关键词: 法医遗传学; 遗传多态性; Y染色体短串联重复序列; 汉族

中图分类号:DF795.2 文献标志码:A 文章编号:1008-3650(2015)05-0424-02 doi: 10.16467/j.1008-3650.2015.05.019

Genetic Polymorphism of 16 Y-STR Loci in Han Population in Jining Area

SUN Qingdong¹, HOU Weiguang²

1. Criminal Investigation Department of Shangdong Provincial Public Security Bureau, Jinan 250000, China

2. Criminal Technology Division of Jinan Railway Public Security Bureau, Jinan 250000, China

Abstract

Objective To investigate the genetic polymorphism of 16 Y-chromosomal short tandem repeats (Y-STR) loci in Han population in Jining area and to evaluate its forensic significance through comparison with the frequencies distribution of some loci in settlement-different people. Methods Blood samples were collected from 5585 male individuals of Han-population in Jining area. 16 Y-STR loci were amplified with Y-filer PCR Amplification Kit. Genotypes and frequencies of alleles were obtained by ID-X GeneMapper analysis software. The frequency distribution on some loci was statistically compared with same or different people in various settlements. Results Of 5585 male individuals, 5~13 kinds of alleles were found among the 16 Y-STR loci of DYS391, DYS389I, DYS439, DYS389II, DYS438, DYS456, DYS458, DYS437, DYS635, DYS448, Y_GATA_H4, DYS19, DYS393, DYS390, DYS392, DYS385a/b and with the last one DYS385a/b having 99 haplotypes. Frequencies of the above 16 Y-STR loci ranged from 0.0002 to 0.640, and the gene diversity 0.3972 to 0.9634. Conclusions The 16 Y-STR loci are of highly genetic polymorphism in Han population in Jining area, suitable for genetics and forensic research.

Keyword: forensic genetics; genetic polymorphism; Y chromosomal short tandem repeat; Han population

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本研究调查了济宁地区汉族人群5585 名男性16个Y-STR 基因座遗传多态性。采用Y-filer^TM荧光标记复合扩增试剂盒（美国Life Technologies公司）, 用GeneAmp 9700型扩增仪扩增。PCR扩增产物使用3130XL遗传分析仪检测。使用GeneMapper ID-X软件对电泳数据进行基因分型分析。使用所得基因分型数据计算各基因座等位基因频率。基因多样性（gene diversity, GD）和单倍型多样性按公式GD=n(1-∑ P_i²)/(n-1) (P_i为等位基因或单倍型频率, n为样本数)计算^[1]。济宁地区汉族与其它群体等位基因频率分布方面的差异采用R× C列联表卡方检验比较^[2]。结果见表1、表2。

表 1 济宁地区汉族人群16个 Y-STR 基因座基因频率分布及基因多样性 Table 1 Allele frequencies and diversities of 16 Y-STR loci of the Han nationality in Jining area（n=5585）

DYS385a/b		DYS385a/b		DYS385a/b		DYS389I		DYS19		DYS635
A	F	A	F	A	F	A	F	A	F	A	F
10/11	0.0063	13/17	0.0360	17/23	0.0002	11	0.0045	16	0.2507	19	0.0859
10/12	0.0036	13/18	0.0716	18	0.0004	12	0.5157	17	0.0908	20	0.2295
10/13	0.0021	13/19	0.0496	18/19	0.0005	13	0.3006	18	0.0030	21	0.3594
10/14	0.0005	13/20	0.0195	18/20	0.0007	14	0.1660	DYS456		22	0.1547
10/15	0.0004	13/21	0.0090	19	0.0005	15	0.0124	A	F	23	0.1253
10/16	0.0007	13/22	0.0011	19/20	0.0021	16	0.0009	13	0.0154	24	0.0408
10/17	0.0029	13/23	0.0007	19/21	0.0002	DYS439		14	0.1755	25	0.0027
10/18	0.0002	13/24	0.0029	19/23	0.0002	A	F	15	0.5368	DYS448
10/19	0.0011	13/25	0.0005	20/21	0.0002	8	0.0002	16	0.2217	A	F
10/20	0.0004	14	0.0021	20/22	0.0002	9	0.0011	17	0.0414	16	0.0002
11	0.0349	14/15	0.0014	21	0.0002	10	0.0433	18	0.0056	17	0.0054
11/12	0.0512	14/16	0.0056	8/20	0.0002	11	0.4337	19	0.0038	18	0.1286
11/13	0.0030	14/17	0.0252	9/11	0.0002	12	0.3864	DYS458		19	0.3705
11/14	0.0064	14/18	0.0317	9/13	0.0002	13	0.1226	A	F	20	0.3370
11/15	0.0064	14/19	0.0193	9/16	0.0011	14	0.0116	22	0.0005	21	0.1269
11/16	0.0063	14/20	0.0054	DYS392		15	0.0011	14	0.0082	22	0.0299
11/17	0.0564	14/21	0.0122	A	F	DYS389II		14.1	0.0030	23	0.0016
11/18	0.0256	14/22	0.0016	7	0.0013	A	F	15	0.0990	Y_GATA_H4
11/19	0.0192	14/23	0.0013	10	0.0005	25	0.0005	15.1	0.0002	A	F
11/20	0.0104	15/16	0.0009	11	0.1887	26	0.0090	16	0.2575	9	0.0016
11/21	0.0027	15/17	0.0095	12	0.1384	27	0.0625	17	0.2766	10	0.0820
11/22	0.0002	15/18	0.0061	13	0.3218	28	0.3223	17.2	0.0005	11	0.3420
11.2/19	0.0002	15/19	0.0018	14	0.2820	29	0.3316	18	0.2107	12	0.4940
12	0.0448	15/20	0.0079	15	0.0659	30	0.1934	19	0.1044	13	0.0786
12/13	0.0206	15/21	0.0247	16	0.0009	31	0.0677	19.2	0.0002	14	0.0018
12/14	0.0052	15/22	0.0075	17	0.0005	32	0.0116	20	0.0351	DYS390
12/15	0.0140	15/23	0.0014	DYS393		33	0.0013	21	0.0039	A	F
12/16	0.0392	15/24	0.0002	A	F	DYS438		DYS437		20	0.0023
12/16.2	0.0002	16	0.0004	10	0.0030	A	F	A	F	21	0.0025
12/17	0.0526	16/17	0.0009	11	0.0081	8	0.0007	12	0.0004	22	0.0448
12/18	0.0498	16/18	0.0011	12	0.5409	9	0.0120	13	0.0091	23	0.4695
12/19	0.0671	16/19	0.0009	13	0.1832	10	0.7117	14	0.6199	24	0.3008
12/20	0.0288	16/20	0.0013	14	0.1832	11	0.2188	15	0.3454	25	0.1491
12/21	0.0068	16/21	0.0025	15	0.0790	12	0.0546	16	0.0252	26	0.0295
12/22	0.0009	16/22	0.0025	16	0.0027	13	0.0021	17	0.0004	27	0.0014
12/23	0.0013	16/23	0.0021	DYS391		DYS19		DYS635
12/24	0.0004	16/25	0.0004	A	F	A	F	A	F
12/25	0.0011	17	0.0011	6	0.0029	11	0.0002	17	0.0007
13	0.0267	17/18	0.0005	9	0.0689	12	0.0005	18	0.0009
13/14	0.0075	17/19	0.0004	10	0.7560	13	0.0654
13/15	0.0039	17/20	0.0007	11	0.1626	14	0.2292
13/16	0.0097	17/21	0.0002	12	0.0097	15	0.3603

表 2 济宁地区汉族人群16个 Y-STR 基因座基GD值 Table 2 GD of 16 Y-STR loci of the Han nationality in Jining area（n=5585）

DYS385a/b基因座共检出99个单倍型, 其余基因座上共发现5~13种等位基因, 其等位基因频率分布在0.0002~0.7560之间。16个Y-STR基因座GD分布在0.3972~0.9634之间。除DYS438、DYS391外, 其余基因座GD值都大于0.50。DYS438、DYS391在本次调查中GD值偏低, 在济宁地区不是理想的遗传学标记。文献报道在DYS385基因座中发现三个等位基因^[4], 但本次调查未发现DYS385基因座存在三重等位基因现象。

综上所述, 济宁地区汉族群体在所研究的16个Y-STR位点具有丰富的遗传多样性, 为该地区父权鉴定和个体识别的研究提供了有价值的鉴定资料。

The authors have declared that no competing interests exist.

参考文献

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