山东汉族人群中13个快速突变(RM)Y-STR基因座的多态性

doi:10.16359/j.cnki.cn11-1963/q.2017.0073

人类学学报 ›› 2019, Vol. 38 ›› Issue (02): 292-303.doi: 10.16359/j.cnki.cn11-1963/q.2017.0073cstr: 32091.14.j.cnki.cn11-1963/q.2017.0073

山东汉族人群中13个快速突变(RM)Y-STR基因座的多态性

陈玉玲¹^,²(), 李敏², 赵珍敏², 李亚男², 包云², 盛翔², 朱如心², 王亚丽², 马兴元¹^,^*()

1.华东理工大学生物工程学院生物反应器工程国家重点实验室,上海 200237
2.司法部司法鉴定科学技术研究所,上海市法医学重点实验室,上海市司法鉴定专业技术服务平台,上海 200063

收稿日期:2017-02-15 修回日期:2017-05-21 出版日期:2019-05-15 发布日期:2020-09-10
通讯作者: 马兴元
作者简介:陈玉玲（1992-）,女,华东理工大学生物工程学院生物反应器工程国家重点实验室及司法部司法鉴定科学技术研究所研究生,主要从事法医遗传学研究,E-mail: 616210168@qq.com
基金资助:
“十三五”国家重点研发项目资助(2016YFC0800703);国家自然科学基金(81601651);国家自然科学基金(81625013);中央级公益性科研院所项目(GY2016G-4);上海市“科技创新行动计划”项目(16dz1205500)

Genetic Polymorphism of 13 RM Y-STR Loci in Shandong Population

CHEN Yuling¹^,²(), LI Min², ZHAO Zhenmin², Li Yanan², BAO Yun², ZHU Ruxin², SHENG Xiang², WANG Yali², MA Xingyuan¹^,^*()

1. School of Biotechnology and State Key Laboratory of Bioreactor Engineering, East China University of Science and Technology, Shanghai 200237
2. Shanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Institute of Forensic Science, Ministry of Justice, Shanghai 200063

Received:2017-02-15 Revised:2017-05-21 Online:2019-05-15 Published:2020-09-10
Contact: MA Xingyuan

摘要/Abstract

摘要：

本研究旨在调查13个快速突变Y染色体STR基因座 (RM Y-STR) 在山东汉族人群中的等位基因频率以及遗传多态性。采集154个山东无关男性个体FTA卡血液样本。采用13 个RM Y-STR PCR复合扩增体系进行扩增以及AB 3130 XL遗传分析仪进行Y-STR分型,并对分型结果进行相关统计,检测13个RM Y-STR位点遗传多态性分布。本研究在13个基因座上共检测出331个等位基因,基因型多态性 (GD) 分布在0.7643 (DYS576)~0.9946 (DYF399S1abc) 之间。通过13个RM Y-STR基因座在154名山东汉族男性无关个体中共检测出154种单倍型,无共享单倍型现象出现。总的单倍型多样性 (HD值) 为1,识别能力 (DC值) 为1。故13个RM Y-STR基因座组成的分型系统在山东汉族人群中表现出很强的个体识别能力,具有重要的法医学应用价值。

关键词: 快速突变, 遗传多态性, 单倍型, 山东, Y染色体

Abstract:

To verify the allele frequency and the haplotype diversity of the 13 rapidly mutating (RM) Y-STRs in Shandong province, Chinese Han population, we collected 154 unrelated male blood samples on FTA cards, and amplified the 13 RM Y-STRs with multiple PCR and tested the genotype using 3130XL (ABI) Genetic Analyzer. Among 13 RM Y-STRs, we observed a total of 331 alleles, and the values of gene diversity for each STR ranged from 0.7643 (DYS576) ~ 0.9946 (DYF399S1abc). Altogether 154 different haplotypes were identified from 154 unrelated male individuals and the haplotype diversity reached 1. We make a Conclusion that 13 RM Y-STRs show strong discrimination power and great application value for forensic in Shandong Han population.

Key words: Rapidly mutating, Genetic polymorphic, Haplotype, Shandong, Y-chromosome

中图分类号:

Q987

陈玉玲, 李敏, 赵珍敏, 李亚男, 包云, 盛翔, 朱如心, 王亚丽, 马兴元. 山东汉族人群中13个快速突变(RM)Y-STR基因座的多态性[J]. 人类学学报, 2019, 38(02): 292-303.

CHEN Yuling, LI Min, ZHAO Zhenmin, Li Yanan, BAO Yun, ZHU Ruxin, SHENG Xiang, WANG Yali, MA Xingyuan. Genetic Polymorphism of 13 RM Y-STR Loci in Shandong Population[J]. Acta Anthropologica Sinica, 2019, 38(02): 292-303.

图/表 5

参考文献 23

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DYS626		DYF403S1b1		DYS404S1ab		DYF387S1ab		DYF403S1a
等位基因	频率	等位基因	频率	等位基因	频率	等位基因	频率	等位基因	频率
26	1.30%	15.2	2.60%	12-13 13	5.20%	34	0.60%	32-34	0.60%
27	2.60%	16.2	9.70%	12-14	0.60%	34.2-38	0.60%	34-36	0.60%
28	19.50%	17.2	18.20%	12-15	1.30%	34-37	2.60%	34-39	1.30%
29	22.10%	18.2	20.80%	13	18.20%	34-38	1.30%	35.2-42	0.60%
30	16.20%	19.2	18.20%	13-14	20.10%	34-39	3.20%	35-37	0.60%
31	19.50%	20.2	12.30%	13-15	5.80%	34-41	0.60%	35-38	1.90%
32	7.10%	21.2	11.00%	13-16	4.50%	35	1.30%	35-39	1.30%
33	5.80%	22.2	4.50%	14	9.10%	35-37	1.90%	35-41	0.60%
34	5.20%	23.2	1.90%	14-15	7.80%	35-38	14.30%	35-42	0.60%
35	0.60%	24.2	0.60%	14-15-16	0.60%	35-39	7.10%	36	1.30%
DYS449		DYF403S1b2		14-16	3.90%	35-40	0.60%	36-37	1.90%
等位基因	频率	等位基因	频率	14-17	1.90%	36	5.20%	36-38	3.90%
26	1.90%	51.2	2.60%	14-18	0.60%	36-37	6.50%	36-40	1.30%
27	4.50%	52.2	3.20%	15	10.40%	36-38	9.10%	36-42	0.60%
28	7.80%	53.2	2.60%	15-16	5.20%	36-39	5.20%	36-43	0.60%
29	9.70%	54.2	1.30%	15-16-17	0.60%	36-40	3.20%	36-45	0.60%
30	10.40%	55.2	3.90%	16	1.30%	36-41	1.30%	37	1.30%
31	16.20%	56.2	7.80%	16	1.30%	36-42	0.60%	37-38	7.10%
32	13.00%	57.2	9.10%	16-17	1.90%	37	2.60%	37-39	1.90%
33	13.60%	58.2	14.90%	17	0.60%	37-38	8.40%	37-40	2.60%
34	13.60%	59.2	14.30%	DYS526a		37-39	1.90%	37-41	1.30%
35	6.50%	60.2	15.60%	等位基因	频率	37-40	1.30%	37-42	1.90%
36	1.30%	61.2	13.60%	12	11.00%	37-41	0.60%	37-43	2.60%
37	0.60%	62.2	5.80%	13	20.10%	38	5.20%	38	4.50%
38	0.60%	63.2	2.60%	14	29.20%	38-39	1.30%	38.2-41	0.60%
DYS627		64.2	2.60%	15	28.60%	38-40	3.90%	38-39	5.20%
等位基因	频率	DYS612		16	10.40%	38-41	0.60%	38-40	5.20%
16	1.30%	等位基因	频率	17	0.60%	38-42	0.60%	38-41	3.20%
17	3.20%	31	1.30%	DYS526b		39	1.90%	38-42	1.30%
18	15.60%	32	4.50%	等位基因	频率	39-40	3.20%	39	1.90%
19	13.60%	33	4.50%	33	0.60%	40	1.90%	39-40	8.40%
20	20.80%	34	9.70%	34	5.20%	40-41	0.60%	39-41	5.20%
21	16.20%	35	9.70%	35	11.00%	DYS518		39-42	1.90%
21.2	0.60%	36	18.80%	36	15.60%	等位基因	频率	40	5.80%
22	16.90%	37	18.20%	37	33.80%	33	1.30%	40-41	4.50%
23	6.50%	38	12.30%	38	21.40%	34	3.20%	40-43	1.90%
24	4.50%	39	17.50%	39	9.70%	35	12.30%	40-44	0.60%
25	0.60%	40	3.20%	40	2.60%	36	24.70%	41	1.30%
DYS576		DYS547		DYS570		36.2	0.60%	41-42	0.60%
等位基因	频率	等位基因	频率	等位基因	频率	37	16.90%	41-43	3.20%
10	0.60%	42	3.20%	14	2.60%	37.2	0.60%	41-44	0.60%
14	0.60%	43	2.60%	15	4.50%	38	14.90%	41-46	0.60%
15	1.30%	44	3.20%	16	20.80%	39	14.30%	42	1.30%
16	7.80%	45	5.20%	17	21.40%	40	3.90%	42-43	1.30%
17	15.60%	46	7.10%	18	23.40%	41	4.50%	42-44	1.30%
18	39.60%	47	16.90%	19	20.80%	42	0.60%	42-46	0.60%
19	20.10%	48	26.00%	20	5.20%	43	0.60%	43-45	0.60%
20	11.00%	49	14.30%	21	1.30%	44	0.60%
21	2.60%	50	13.00%			46	0.60%
22	0.60%	51	3.90%
		52	4.50%
DYF399S1abc
等位基因	频率	等位基因	频率	等位基因	频率	等位基因	频率	等位基因	频率
16-22-23	0.60%	20-23.1-24.1	0.60%	21-22-26.1	1.30%	21-26-27.1	0.60%	23.1-24-25	0.60%
16-25-27.1	0.60%	20-23.1-25	2.60%	21-23.1	1.30%	21-27.1	0.60%	23.1-24-26.1	0.60%
17.1-19-25	0.60%	20-23-24.1	1.30%	21-23.1-24	0.60%	22.1	0.60%	23-23.1	0.60%
18-23.1-25	0.60%	20-23-25.1	0.60%	21-23.1-25	1.30%	22.1-24	0.60%	23-24.1	1.30%
18-24-25.1	0.60%	20-23-26.1	0.60%	21-23-23.1	2.60%	22.1-25-26	0.60%	23-24.1-25	0.60%
19.1-21-27	0.60%	20-24	0.60%	21-23-24.1	1.30%	22-22.1	0.60%	23-24-24.1	1.30%
19.1-21-28	0.60%	20-24.1-25	0.60%	21-23-24-24.1	0.60%	22-22.1-23	0.60%	23-24-29.1	0.60%
19.1-21-28.2	0.60%	20-24-24.1	1.90%	21-23-25.1	0.60%	22-23	0.60%	24.1	0.60%
19.1-21-29	0.60%	20-24-25.1	0.60%	21-23-26.1	0.60%	22-23.1	1.30%	24.1-26	1.30%
19-20-24.1	0.60%	20-24-26.1	1.30%	21-23-27.1	0.60%	22-23.1-24	1.90%	24.1-26.1	0.60%
19-21.1-23	0.60%	20-24-27.1	1.30%	21-24.1-25	1.30%	22-23-25.1	0.60%	24-24.1-25	0.60%
19-21-23.1	1.30%	20-25.1	0.60%	21-24.1-26	1.30%	22-23-28	0.60%	24-25-26.1	0.60%
19-22.1-23	0.60%	20-25.1-26	0.60%	21-24-24.1	1.30%	22-24.1	0.60%	24-27.1	1.30%
19-23-26.1	0.60%	20-27.1	0.60%	21-24-25.1	2.60%	22-24.1-25	1.30%	25.1-27.1	0.60%
19-24-24.1	0.60%	21	1.30%	21-24-26.1	0.60%	22-24-24.1	0.60%	26.1	3.20%
19-26-26.1	0.60%	21.1	0.60%	21-24-27.1	1.30%	22-24-25.1	2.60%	28.1	0.60%
20.1-22-23	0.60%	21.1-22-24	0.60%	21-25.1-26	0.60%	22-24-27.1	1.30%	30.1	0.60%
20-22.1-25	1.30%	21.1-23-25	0.60%	21-25-25.1	1.90%	22-24-27.1	0.60%	31.1	0.60%
20-22-24.1	0.60%	21-21.1-22-23-23.1	0.60%	21-25-27.1	1.30%	22-26.1-27	0.60%
20-22-28.1	0.60%	21-22.1-23	0.60%	21-25-28.1	0.60%	22-27-27.1	0.60%
20-22-29.1	0.60%	21-22-22.1	1.30%	21-26.1-28	0.60%	23	0.60%
20-23.1-24	1.90%	21-22-23.1	0.60%	21-26-26.1	0.60%	23.1-24.1	1.30%

DYS626		DYF403S1b1		DYS404S1ab		DYF387S1ab		DYF403S1a
等位基因	频率	等位基因	频率	等位基因	频率	等位基因	频率	等位基因	频率
26	1.30%	15.2	2.60%	12-13 13	5.20%	34	0.60%	32-34	0.60%
27	2.60%	16.2	9.70%	12-14	0.60%	34.2-38	0.60%	34-36	0.60%
28	19.50%	17.2	18.20%	12-15	1.30%	34-37	2.60%	34-39	1.30%
29	22.10%	18.2	20.80%	13	18.20%	34-38	1.30%	35.2-42	0.60%
30	16.20%	19.2	18.20%	13-14	20.10%	34-39	3.20%	35-37	0.60%
31	19.50%	20.2	12.30%	13-15	5.80%	34-41	0.60%	35-38	1.90%
32	7.10%	21.2	11.00%	13-16	4.50%	35	1.30%	35-39	1.30%
33	5.80%	22.2	4.50%	14	9.10%	35-37	1.90%	35-41	0.60%
34	5.20%	23.2	1.90%	14-15	7.80%	35-38	14.30%	35-42	0.60%
35	0.60%	24.2	0.60%	14-15-16	0.60%	35-39	7.10%	36	1.30%
DYS449		DYF403S1b2		14-16	3.90%	35-40	0.60%	36-37	1.90%
等位基因	频率	等位基因	频率	14-17	1.90%	36	5.20%	36-38	3.90%
26	1.90%	51.2	2.60%	14-18	0.60%	36-37	6.50%	36-40	1.30%
27	4.50%	52.2	3.20%	15	10.40%	36-38	9.10%	36-42	0.60%
28	7.80%	53.2	2.60%	15-16	5.20%	36-39	5.20%	36-43	0.60%
29	9.70%	54.2	1.30%	15-16-17	0.60%	36-40	3.20%	36-45	0.60%
30	10.40%	55.2	3.90%	16	1.30%	36-41	1.30%	37	1.30%
31	16.20%	56.2	7.80%	16	1.30%	36-42	0.60%	37-38	7.10%
32	13.00%	57.2	9.10%	16-17	1.90%	37	2.60%	37-39	1.90%
33	13.60%	58.2	14.90%	17	0.60%	37-38	8.40%	37-40	2.60%
34	13.60%	59.2	14.30%	DYS526a		37-39	1.90%	37-41	1.30%
35	6.50%	60.2	15.60%	等位基因	频率	37-40	1.30%	37-42	1.90%
36	1.30%	61.2	13.60%	12	11.00%	37-41	0.60%	37-43	2.60%
37	0.60%	62.2	5.80%	13	20.10%	38	5.20%	38	4.50%
38	0.60%	63.2	2.60%	14	29.20%	38-39	1.30%	38.2-41	0.60%
DYS627		64.2	2.60%	15	28.60%	38-40	3.90%	38-39	5.20%
等位基因	频率	DYS612		16	10.40%	38-41	0.60%	38-40	5.20%
16	1.30%	等位基因	频率	17	0.60%	38-42	0.60%	38-41	3.20%
17	3.20%	31	1.30%	DYS526b		39	1.90%	38-42	1.30%
18	15.60%	32	4.50%	等位基因	频率	39-40	3.20%	39	1.90%
19	13.60%	33	4.50%	33	0.60%	40	1.90%	39-40	8.40%
20	20.80%	34	9.70%	34	5.20%	40-41	0.60%	39-41	5.20%
21	16.20%	35	9.70%	35	11.00%	DYS518		39-42	1.90%
21.2	0.60%	36	18.80%	36	15.60%	等位基因	频率	40	5.80%
22	16.90%	37	18.20%	37	33.80%	33	1.30%	40-41	4.50%
23	6.50%	38	12.30%	38	21.40%	34	3.20%	40-43	1.90%
24	4.50%	39	17.50%	39	9.70%	35	12.30%	40-44	0.60%
25	0.60%	40	3.20%	40	2.60%	36	24.70%	41	1.30%
DYS576		DYS547		DYS570		36.2	0.60%	41-42	0.60%
等位基因	频率	等位基因	频率	等位基因	频率	37	16.90%	41-43	3.20%
10	0.60%	42	3.20%	14	2.60%	37.2	0.60%	41-44	0.60%
14	0.60%	43	2.60%	15	4.50%	38	14.90%	41-46	0.60%
15	1.30%	44	3.20%	16	20.80%	39	14.30%	42	1.30%
16	7.80%	45	5.20%	17	21.40%	40	3.90%	42-43	1.30%
17	15.60%	46	7.10%	18	23.40%	41	4.50%	42-44	1.30%
18	39.60%	47	16.90%	19	20.80%	42	0.60%	42-46	0.60%
19	20.10%	48	26.00%	20	5.20%	43	0.60%	43-45	0.60%
20	11.00%	49	14.30%	21	1.30%	44	0.60%
21	2.60%	50	13.00%			46	0.60%
22	0.60%	51	3.90%
		52	4.50%
DYF399S1abc
等位基因	频率	等位基因	频率	等位基因	频率	等位基因	频率	等位基因	频率
16-22-23	0.60%	20-23.1-24.1	0.60%	21-22-26.1	1.30%	21-26-27.1	0.60%	23.1-24-25	0.60%
16-25-27.1	0.60%	20-23.1-25	2.60%	21-23.1	1.30%	21-27.1	0.60%	23.1-24-26.1	0.60%
17.1-19-25	0.60%	20-23-24.1	1.30%	21-23.1-24	0.60%	22.1	0.60%	23-23.1	0.60%
18-23.1-25	0.60%	20-23-25.1	0.60%	21-23.1-25	1.30%	22.1-24	0.60%	23-24.1	1.30%
18-24-25.1	0.60%	20-23-26.1	0.60%	21-23-23.1	2.60%	22.1-25-26	0.60%	23-24.1-25	0.60%
19.1-21-27	0.60%	20-24	0.60%	21-23-24.1	1.30%	22-22.1	0.60%	23-24-24.1	1.30%
19.1-21-28	0.60%	20-24.1-25	0.60%	21-23-24-24.1	0.60%	22-22.1-23	0.60%	23-24-29.1	0.60%
19.1-21-28.2	0.60%	20-24-24.1	1.90%	21-23-25.1	0.60%	22-23	0.60%	24.1	0.60%
19.1-21-29	0.60%	20-24-25.1	0.60%	21-23-26.1	0.60%	22-23.1	1.30%	24.1-26	1.30%
19-20-24.1	0.60%	20-24-26.1	1.30%	21-23-27.1	0.60%	22-23.1-24	1.90%	24.1-26.1	0.60%
19-21.1-23	0.60%	20-24-27.1	1.30%	21-24.1-25	1.30%	22-23-25.1	0.60%	24-24.1-25	0.60%
19-21-23.1	1.30%	20-25.1	0.60%	21-24.1-26	1.30%	22-23-28	0.60%	24-25-26.1	0.60%
19-22.1-23	0.60%	20-25.1-26	0.60%	21-24-24.1	1.30%	22-24.1	0.60%	24-27.1	1.30%
19-23-26.1	0.60%	20-27.1	0.60%	21-24-25.1	2.60%	22-24.1-25	1.30%	25.1-27.1	0.60%
19-24-24.1	0.60%	21	1.30%	21-24-26.1	0.60%	22-24-24.1	0.60%	26.1	3.20%
19-26-26.1	0.60%	21.1	0.60%	21-24-27.1	1.30%	22-24-25.1	2.60%	28.1	0.60%
20.1-22-23	0.60%	21.1-22-24	0.60%	21-25.1-26	0.60%	22-24-27.1	1.30%	30.1	0.60%
20-22.1-25	1.30%	21.1-23-25	0.60%	21-25-25.1	1.90%	22-24-27.1	0.60%	31.1	0.60%
20-22-24.1	0.60%	21-21.1-22-23-23.1	0.60%	21-25-27.1	1.30%	22-26.1-27	0.60%
20-22-28.1	0.60%	21-22.1-23	0.60%	21-25-28.1	0.60%	22-27-27.1	0.60%
20-22-29.1	0.60%	21-22-22.1	1.30%	21-26.1-28	0.60%	23	0.60%
20-23.1-24	1.90%	21-22-23.1	0.60%	21-26-26.1	0.60%	23.1-24.1	1.30%

等位基因	D_g值	标准DNA9948基因分型	观察到等位基因范围
DYS526a	0.7746	14	12-17
DYS626	0.8423	28	26-35
DYS526b	0.7959	36	33-40
DYS627	0.8571	22	16-25
DYF403S1b1	0.8563	20.2	15.2-24.2
DYS612	0.8673	37	31-40
DYF403S1b2	0.8972	55.2	51.2-64.2
DYS576	0.7643	16	10-22
DYS570	0.8126	18	14-21
DYS547	0.8580	48	42-52
DYS518	0.8532	38	33-46
DYS449	0.8925	30	26-38
DYF404S1ab	0.8934	12-14	12-17
DYF399S1abc	0.9946	21-22-25.1	16-31.1
DYF387S1ab	0.9444	35-38	34-41
DYF403S1a	0.9688	35-40	32-45

等位基因	D_g值	标准DNA9948基因分型	观察到等位基因范围
DYS526a	0.7746	14	12-17
DYS626	0.8423	28	26-35
DYS526b	0.7959	36	33-40
DYS627	0.8571	22	16-25
DYF403S1b1	0.8563	20.2	15.2-24.2
DYS612	0.8673	37	31-40
DYF403S1b2	0.8972	55.2	51.2-64.2
DYS576	0.7643	16	10-22
DYS570	0.8126	18	14-21
DYS547	0.8580	48	42-52
DYS518	0.8532	38	33-46
DYS449	0.8925	30	26-38
DYF404S1ab	0.8934	12-14	12-17
DYF399S1abc	0.9946	21-22-25.1	16-31.1
DYF387S1ab	0.9444	35-38	34-41
DYF403S1a	0.9688	35-40	32-45

山东汉族人群中13个快速突变(RM)Y-STR基因座的多态性

Genetic Polymorphism of 13 RM Y-STR Loci in Shandong Population

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