Genetic Polymorphism Analysis on Short Tandem Repeats of Y Chromosome in Han Population of Hohhot

doi:10.19586/j.2095-2341.2024.0195

Current Biotechnology ›› 2025, Vol. 15 ›› Issue (3): 544-554.DOI: 10.19586/j.2095-2341.2024.0195

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Genetic Polymorphism Analysis on Short Tandem Repeats of Y Chromosome in Han Population of Hohhot

Luyao LI¹(), Ning LYU²(), Yongjie ZHAI², Run ZHANG³, Anxin YAN⁴, Fuquan JIA⁵()

^1.Department of Pathology，The First Affiliated Hospital of Xi'an Jiaotong University，Xi'an 710061，China
^2.Hohhot Public Security Bureau，Hohhot 010051，China
^3.Chifeng Public Security Bureau，Inner Mongolia Chifeng 024000，China
^4.Institute of Identification，Ministry of Public Security，Beijing 100038，China
^5.The Department of Forensic Medicine，Inner Mongolia Medical University，Hohhot 010059，China.

Received:2024-12-18 Accepted:2025-02-12 Online:2025-05-25 Published:2025-07-01
Contact: Fuquan JIA

呼和浩特汉族人群Y-STR的遗传多态性分析

李璐瑶¹(), 吕宁²(), 翟永结², 张润³, 严安心⁴, 贾富全⁵()

^1.西安交通大学第一附属医院病理科，西安 710061
^2.呼和浩特市公安局，呼和浩特 010051
^3.赤峰市公安局，内蒙古赤峰 024000
^4.公安部鉴定中心，北京 100038
^5.内蒙古医科大学基础医学院法医学教研室，呼和浩特 010059

通讯作者: 贾富全
作者简介:李璐瑶 E-mail: luyaoli@xjtufh.edu.cn
吕宁 E-mail: 13948514862@139.com第一联系人：（李璐瑶、吕宁并列第一作者）
基金资助:
内蒙古医科大学大学生创新创业训练计划项目(202210132012)

Abstract

Abstract:

To evaluate the genetic polymorphism of 38 Y-chromosomal short tandem repeat （Y-STR） loci in the Han population of Hohhot， Inner Mongolia Autonomous Region， and to explore their forensic application value and genetic relationships with other domestic populations， a multiplex amplification system comprising 38 Y-chromosomal genetic markers was used to amplify samples from 272 randomly selected unrelated Han male individuals in Hohhot City. Allele frequencies and forensic genetic parameters for the 38 Y-STR loci were calculated. Based on haplotype data from domestic populations included in the Y-chromosomal short tandem repeat haplotype reference database （YHRD）， pairwise genetic distances （Rst） between populations were computed， followed by multidimensional scaling （MDS） analysis. A total of 333 alleles were detected across the 38 Y-STR loci， with gene diversity （GD） values ranging from 0.043 4 to 0.967 5. In total， 269 haplotypes were observed， with three haplotypes occurring twice. Haplotype diversity （HD） and discrimination power （DC） were 0.999 9 and 0.989 0， respectively. Population comparison results revealed that the Hohhot Han population exhibited smaller genetic distances （indicating closer genetic relationships） with groups of the same ethnicity or geographically proximate populations， such as the Shaanxi Han population， and conversely， larger genetic distances （indicating more distant relationships） with other groups. The selected multiplex detection system containing 38 Y-STR loci demonstrated high genetic polymorphism， making it suitable for forensic analysis and population genetic studies of the Han population in Hohhot.

Key words: Y chromosome, short tandem repeat （STR）, haplotype, genetic polymorphism, Han Chinese in Hohhot

摘要：

为了评估内蒙古自治区呼和浩特汉族群体38个Y染色体短串联重复序列（Y-chromosomal short tandem repeat, Y-STR）的遗传多态性，探索其法医学应用价值及与国内其他群体的遗传关系，应用38个Y染色体遗传标记构成的复合扩增系统对随机选取的呼和浩特市272个无关汉族男性个体样本进行扩增，统计38个Y-STR基因座的等位基因频率和法医遗传学参数；基于Y染色体短串联重复序列单倍型数据库（Y-chromosomal short tandem repeat haplotype reference database, YHRD）纳入的国内各群体单倍型数据计算群体间的遗传距离（pairwise genetic distance, Rst），并在此基础上进行多维尺度分析（multidimensional scaling, MDS）。38个Y-STR基因座共检出333个等位基因，基因多样性值（gene diversity, GD）为0.043 4~0.967 5。共检出269种单倍型，其中3种单倍型出现2次。单倍型多样性（haplotype diversity, HD）和单倍型识别率（discrimination power, DC）分别为0.999 9和0.989 0。群体比较结果显示，呼和浩特汉族与陕西汉族等同一种族或地理位置毗邻的群体的遗传距离较小，即遗传关系较近，反之则遗传关系较远。研究选取的包含38个Y-STR基因座的复合检测体系具有较高的遗传多态性，适合呼和浩特汉族群体的法医学分析和群体遗传学研究。

关键词: Y染色体, 短串联重复序列, 单倍型, 遗传多态性, 呼和浩特汉族

CLC Number:

Luyao LI, Ning LYU, Yongjie ZHAI, Run ZHANG, Anxin YAN, Fuquan JIA. Genetic Polymorphism Analysis on Short Tandem Repeats of Y Chromosome in Han Population of Hohhot[J]. Current Biotechnology, 2025, 15(3): 544-554.

李璐瑶, 吕宁, 翟永结, 张润, 严安心, 贾富全. 呼和浩特汉族人群Y-STR的遗传多态性分析[J]. 生物技术进展, 2025, 15(3): 544-554.

Figures/Tables 10

References 20

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DYS449		DYS627		DYS481		DYS557		DYS635
(GD=0.870 6)		(GD=0.851 6)		(GD=0.798 1)		(GD=0.786 2)		(GD=0.771 9)
等位基因	基因频率	等位基因	基因频率	等位基因	基因频率	等位基因	基因频率	等位基因	基因频率
24	0.003 7	16	0.025 7	20	0.011 0	12	0.003 7	17	0.003 7
27	0.066 2	17	0.033 1	21	0.040 4	13	0.047 8	18	0.007 4
28	0.110 3	18	0.128 7	22	0.147 1	14	0.327 2	19	0.077 2
29	0.091 9	19	0.091 9	23	0.286 8	15	0.250 0	20	0.286 8
30	0.114 0	20	0.161 8	24	0.286 8	16	0.150 7	21	0.327 2
31	0.147 1	21	0.239 0	25	0.095 6	17	0.136 0	22	0.165 4
32	0.191 2	22	0.180 1	26	0.080 9	18	0.055 1	23	0.080 9
33	0.180 1	23	0.084 6	27	0.029 4	19	0.022 1	24	0.040 4
34	0.055 1	24	0.040 4	28	0.022 1	20	0.007 4	25	0.011 0
35	0.029 4	25	0.014 7
36	0.011 0

DYS449		DYS627		DYS481		DYS557		DYS635
(GD=0.870 6)		(GD=0.851 6)		(GD=0.798 1)		(GD=0.786 2)		(GD=0.771 9)
等位基因	基因频率	等位基因	基因频率	等位基因	基因频率	等位基因	基因频率	等位基因	基因频率
24	0.003 7	16	0.025 7	20	0.011 0	12	0.003 7	17	0.003 7
27	0.066 2	17	0.033 1	21	0.040 4	13	0.047 8	18	0.007 4
28	0.110 3	18	0.128 7	22	0.147 1	14	0.327 2	19	0.077 2
29	0.091 9	19	0.091 9	23	0.286 8	15	0.250 0	20	0.286 8
30	0.114 0	20	0.161 8	24	0.286 8	16	0.150 7	21	0.327 2
31	0.147 1	21	0.239 0	25	0.095 6	17	0.136 0	22	0.165 4
32	0.191 2	22	0.180 1	26	0.080 9	18	0.055 1	23	0.080 9
33	0.180 1	23	0.084 6	27	0.029 4	19	0.022 1	24	0.040 4
34	0.055 1	24	0.040 4	28	0.022 1	20	0.007 4	25	0.011 0
35	0.029 4	25	0.014 7
36	0.011 0

DYS570		DYS447		DYS389II		DYS576		DYS635
(GD=0.813 7)		(GD=0.789 7)		(GD=0.741 9)		(GD=0.786 1)		(GD=0.771 9)
等位基因	基因频率	等位基因	基因频率	等位基因	基因频率	等位基因	基因频率	等位基因	基因频率
14	0.014 7	22	0.014 7	26	0.007 4	15	0.022 1	17	0.003 7
15	0.051 5	23	0.272 1	27	0.106 6	16	0.088 2	18	0.007 4
16	0.176 5	24	0.279 4	28	0.371 3	17	0.209 6	19	0.077 2
17	0.250 0	25	0.183 8	29	0.286 8	18	0.330 9	20	0.286 8
18	0.235 3	26	0.147 1	30	0.161 8	19	0.205 9	21	0.327 2
19	0.183 8	27	0.069 9	31	0.055 1	20	0.106 6	22	0.165 4
20	0.044 1	28	0.018 4	32	0.011 0	21	0.036 8	23	0.080 9
21	0.040 4	29	0.014 7					24	0.040 4
22	0.003 7							25	0.011 0

DYS570		DYS447		DYS389II		DYS576		DYS635
(GD=0.813 7)		(GD=0.789 7)		(GD=0.741 9)		(GD=0.786 1)		(GD=0.771 9)
等位基因	基因频率	等位基因	基因频率	等位基因	基因频率	等位基因	基因频率	等位基因	基因频率
14	0.014 7	22	0.014 7	26	0.007 4	15	0.022 1	17	0.003 7
15	0.051 5	23	0.272 1	27	0.106 6	16	0.088 2	18	0.007 4
16	0.176 5	24	0.279 4	28	0.371 3	17	0.209 6	19	0.077 2
17	0.250 0	25	0.183 8	29	0.286 8	18	0.330 9	20	0.286 8
18	0.235 3	26	0.147 1	30	0.161 8	19	0.205 9	21	0.327 2
19	0.183 8	27	0.069 9	31	0.055 1	20	0.106 6	22	0.165 4
20	0.044 1	28	0.018 4	32	0.011 0	21	0.036 8	23	0.080 9
21	0.040 4	29	0.014 7					24	0.040 4
22	0.003 7							25	0.011 0

DYS448		DYS390		DYS643		DYS393		DYS444
(GD=0.722 3)		(GD=0.679 4)		(GD=0.709 6)		(GD=0.608 2)		(GD=0.700 6)
等位基因	基因频率	等位基因	基因频率	等位基因	基因频率	等位基因	基因频率	等位基因	基因频率
16	0.003 7	21	0.014 7	8	0.018 4	10	0.003 7	10	0.007 4
17	0.029 4	22	0.044 1	9	0.095 6	12	0.558 8	11	0.110 3
18	0.117 6	23	0.477 9	10	0.312 5	13	0.239 0	12	0.371 3
19	0.393 4	24	0.239 0	11	0.408 1	14	0.150 7	13	0.367 6
20	0.312 5	25	0.183 8	12	0.136 0	15	0.044 1	14	0.128 7
21	0.110 3	26	0.040 4	13	0.029 4	16	0.003 7	15	0.011 0
22	0.033 1							16	0.003 7

Genetic Polymorphism Analysis on Short Tandem Repeats of Y Chromosome in Han Population of Hohhot

呼和浩特汉族人群Y-STR的遗传多态性分析

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DYS19		DYS456		DYS438		DYS391		DYS460
(GD=0.706 4)		(GD=0.608 6)		(GD=0.491 8)		(GD=0.377 5)		(GD=0.667 5)
等位基因	基因频率	等位基因	基因频率	等位基因	基因频率	等位基因	基因频率	等位基因	基因频率
13	0.033 1	13	0.018 4	9	0.033 1	7	0.014 7	8	0.003 7
14	0.246 3	14	0.147 1	10	0.661 8	9	0.025 7	9	0.352 9
15	0.422 8	15	0.569 9	11	0.264 7	10	0.768 4	10	0.426 5
16	0.224 3	16	0.209 6	12	0.025 7	11	0.180 1	11	0.158 1
17	0.073 5	17	0.055 1	13	0.014 7	12	0.011 0	12	0.058 8

DYS596		DYS522		DYS549		YGATAH4		DYS439
(GD=0.611 0)		(GD=0.677 5)		(GD=0.588 5)		(GD=0.547 2)		(GD=0.703 2)
等位基因	基因频率	等位基因	基因频率	等位基因	基因频率	等位基因	基因频率	等位基因	基因频率
13	0.011 0	9	0.011 0	10	0.014 7	10	0.047 8	10	0.088 2
14	0.393 4	10	0.099 3	11	0.025 7	11	0.268 4	11	0.349 3
15	0.474 3	11	0.319 9	12	0.533 1	12	0.614 0	12	0.382 4
16	0.106 6	12	0.452 2	13	0.352 9	13	0.058 8	13	0.150 7
17	0.007 4	13	0.084 6	14	0.062 5	14	0.007 4	14	0.025 7
18	0.007 4	14	0.033 1	15	0.011 0	15	0.003 7	15	0.003 7

DYS533		DYS593		DYS389I		DYS437		DYS645
(GD=0.554 1)		(GD=0.602 5)		(GD=0.589 7)		(GD=0.529 3)		(GD=0.043 4)
等位基因	基因频率	等位基因	基因频率	等位基因	基因频率	等位基因	基因频率	等位基因	基因频率
10	0.044 1	14	0.003 7	11	0.011 0	13	0.025 7	6.4	0.003 7
11	0.584 6	15	0.231 6	12	0.540 4	14	0.555 1	8	0.977 9
12	0.319 9	16	0.562 5	13	0.323 5	15	0.404 4	9	0.018 4
13	0.044 1	17	0.169 1	14	0.125 0	16	0.014 7
14	0.007 4	18	0.033 1

DYS527				DYS518		DYS458
(GD=0.943 0)				(GD=0.858 9)		(GD=0.820 7)
等位基因	基因频率	等位基因	基因频率	等位基因	基因频率	等位基因	基因频率
17,21	0.003 7	20,25	0.003 7	32	0.003 7	13	0.003 7
18,19	0.003 7	21,21	0.069 9	33	0.029 4	14	0.014 7
18,20	0.003 7	21,22	0.084 6	34	0.011 0	15	0.095 6
18,23	0.003 7	21,23	0.102 9	35	0.106 6	16	0.187 5
19,19	0.003 7	21,24	0.040 4	36	0.202 2	17	0.235 3
19,20	0.051 5	22,22	0.066 2	36.2	0.003 7	17.2	0.003 7
19,21	0.025 7	22,23	0.066 2	37	0.180 1	18	0.227 9
19,22	0.007 4	22,24	0.047 8	37.2	0.007 4	19	0.165 4
19,23	0.014 7	22,25	0.011 0	38	0.176 5	19.2	0.003 7
20,20	0.025 7	23,23	0.058 8	39	0.147 1	20	0.055 1
20,21	0.018 4	23,24	0.018 4	40	0.055 1	21	0.003 7
20,22	0.044 1	24,24	0.040 4	41	0.044 1	22	0.003 7
20,23	0.088 2	24,25	0.014 7	42	0.025 7
20,24	0.069 9	25,25	0.011 0	43	0.007 4

DYS385						DYF387S1
(GD=0.967 5)						(GD=0.946 7)
等位基因	基因频率	等位基因	基因频率	等位基因	基因频率	等位基因	基因频率	等位基因	基因频率
9,16	0.003 7	12,14	0.011 0	13,22	0.014 7	33,37	0.007 4	36,40	0.022 1
10,16	0.011 0	12,15	0.014 7	13,23	0.003 7	34,34	0.007 4	36,41	0.003 7
10,17	0.003 7	12,16	0.058 8	14,14	0.003 7	34,36	0.003 7	37,37	0.058 8
10,18	0.003 7	12,17	0.018 4	14,15	0.007 4	34,37	0.007 4	37,38	0.077 2
10,19	0.011 0	12,18	0.055 1	14,16	0.018 4	34,38	0.011 0	37,39	0.036 8
11,11	0.033 1	12,19	0.058 8	14,17	0.011 0	34,40	0.003 7	37,40	0.018 4
11,12	0.029 4	12,20	0.011 0	14,18	0.047 8	35,35	0.018 4	37,42	0.003 7
11,13	0.025 7	12,22	0.003 7	14,19	0.007 4	35,36	0.011 0	38,38	0.073 5
11,14	0.025 7	13,13	0.047 8	14,20	0.003 7	35,37	0.033 1	38,39	0.058 8
11,15	0.011 0	13,14	0.007 4	15,16	0.003 7	35,38	0.080 9	38,40	0.022 1
11,16	0.022 1	13,15	0.007 4	15,17	0.018 4	35,39	0.077 2	39,39	0.022 1
11,17	0.014 7	13,17	0.036 8	15,18	0.007 4	35,40	0.022 1	39,40	0.007 4
11,18	0.022 1	13,18	0.058 8	15,21	0.007 4	35,41	0.014 7	39,41	0.007 4
11,19	0.040 4	13,19	0.066 2	18,19	0.007 4	36,36	0.058 8	40,40	0.018 4
11,20	0.014 7	13,20	0.029 4	19,19	0.011 0	36,37	0.025 7	40,41	0.007 4
12,12	0.044 1	13,21	0.003 7	19,20	0.003 7	36,38	0.091 9	41,41	0.003 7
12,13	0.018 4					36,39	0.084 6

群体	呼和浩特汉族	贵州布依族	云南傣族	湖南侗族	四川客家汉族	陕西汉族	四川汉族	湖南苗族	呼伦贝尔蒙古族	鄂尔多斯蒙古族	新疆蒙古族	北川羌族	青海撒拉族	成都藏族	甘孜藏族	拉萨藏族	那曲藏族	阿里藏族	青海藏族	日喀则藏族	湖南土家族	贵阳彝族
呼和浩特汉族	-
贵州布依族	0.052 8	-
云南傣族	0.074 3	0.062 5	-
湖南侗族	0.047 7	0.054 3	0.083 6	-
四川客家汉族	0.015 8	0.025 3	0.072 3	0.056	-
陕西汉族	0.001 4	0.058 2	0.080 9	0.045 1	0.022 0	-
四川汉族	0.011 9	0.028 9	0.067 3	0.025 9	0.010 7	0.010 9	-
湖南苗族	0.011 1	0.036 8	0.077 2	0.016 4	0.017 6	0.009 6	0.003 9	-
呼伦贝尔蒙古族	0.101 0	0.122 5	0.159 3	0.045 1	0.125 6	0.096 1	0.083 7	0.061 0	-
鄂尔多斯蒙古族	0.054 0	0.099 9	0.140 5	0.031 4	0.082 0	0.043 7	0.048 2	0.027 9	0.016 7	-
新疆蒙古族	0.089 8	0.101 1	0.166 5	0.040 5	0.106 6	0.081 7	0.067 6	0.046 8	0.017 3	0.013 5	-
北川羌族	0.004 2	0.032 8	0.072 4	0.044 6	0.003 4	0.007 5	0.004 2	0.009 0	0.107 6	0.063 1	0.089 5	-
青海撒拉族	0.092 4	0.081 2	0.145 4	0.060 4	0.104 3	0.084 3	0.075 7	0.057 7	0.097 5	0.061 1	0.041 9	0.085 7	-
成都藏族	0.131 7	0.112 3	0.194 5	0.113 9	0.126 3	0.125 1	0.084 1	0.093 8	0.132 7	0.112 0	0.090 6	0.107 8	0.127 6	-
甘孜藏族	0.311 7	0.323 8	0.389 7	0.254 7	0.333 6	0.294 2	0.264 5	0.249 9	0.242 3	0.215 7	0.190 0	0.295 9	0.257 7	0.137 1	-
拉萨藏族	0.086 2	0.132 8	0.179 5	0.093 7	0.111 3	0.075 2	0.067 9	0.066 7	0.114 9	0.065 6	0.071 3	0.081 5	0.090 8	0.039 9	0.112 7	-
那曲藏族	0.124 6	0.167 5	0.230 0	0.109 7	0.144 4	0.110 4	0.098 6	0.090 9	0.116 5	0.069 9	0.072 1	0.117 1	0.108 4	0.050 5	0.068 8	0.003 4	-
阿里藏族	0.077 7	0.128 9	0.170 0	0.097 2	0.104 7	0.067 5	0.063 8	0.066 3	0.127 6	0.072 2	0.079 6	0.075 0	0.085 3	0.045 4	0.127 7	0.014 6	0.003 7	-
青海藏族	0.210 1	0.238 4	0.296 8	0.171 7	0.230 3	0.194 2	0.175 3	0.162 8	0.155 1	0.125 8	0.107 8	0.200 5	0.167 2	0.080 5	0.014 3	0.041 8	0.017 9	0.054 2	-
日喀则藏族	0.068 8	0.114 6	0.158 0	0.086 9	0.086 9	0.059 7	0.051 3	0.054 8	0.105 7	0.060 9	0.069 9	0.063 0	0.095 9	0.031 6	0.127 0	0.013 1	0.004 5	0.011 4	0.052 2	-
湖南土家族	0.010 9	0.037 7	0.083 1	0.020 9	0.015 2	0.010 1	0.003 9	0.000 1	0.072 7	0.034 7	0.054 4	0.008 0	0.065 6	0.097 8	0.257 4	0.069 9	0.095 4	0.068 2	0.169 0	0.057 5	-
贵阳彝族	0.027 7	0.037 6	0.070 9	0.025 4	0.025 4	0.019 3	0.008 6	0.012 7	0.087 5	0.047 8	0.069 7	0.018 7	0.063 3	0.110 8	0.276 4	0.084 5	0.108 4	0.078 5	0.187 9	0.071 9	0.014 5	-

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[2]	Longfei MIAO, Dapeng SUN, Wenhua MA, Jianjun ZHONG. Analysis of Genetic Polymorphisms at 37 Y⁃STR Loci in Dezhou Han Population [J]. Current Biotechnology, 2022, 12(2): 288-295.