山西汉族17个YSTR基因座遗传多态性及遗传关系

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1、HEREDITAS (Beijing) 2011 年 3 月, 33(3): 228238研究报告ISSN 0253-9772DOI: 10.3724/SP.J.1005.2011.00228山西汉族 17 个 Y-STR 基因座遗传多态性及遗传关系石美森, 百茹峰, 傅博中国政法大学证据科学教育部重点实验室, 北京 100088摘要: 为了调查山西汉族群体 17 个 Y-STR 基因座的多态性分布, 探讨其群体遗传学及法医学应用价值, 文章应用 Y-filer TM 试剂盒检测 222 名山西汉族无关男性个体的 17 个 Y-STR 基因座, 用 ABI3130 遗传分析仪进行基因分型, 计

2、算等位基因频率及单倍型多样性, 并结合已公开发表的国内其他 13 个群体相关数据资料, 分析山西 汉族群体遗传距离和聚类关系。结果: 山西汉族个体中共检出 219 种单倍型, 单倍型多样性为 0.9999; 基因多 样性 GD 值在 0.3894(DYS391)0.9755(DYS385a/b)。从遗传距离分析发现, 山西汉族与吉黑汉族之间的遗传距离 最近(-0.0001), 与台湾群体(0.0152)之间的遗传距离相对较远。结果表明该 17 个 Y-STR 基因座在山西汉族群体 中具有丰富的遗传多态性, 对建立 Y 染色体 STR 数据库、研究群体遗传学和进行法医学应用有重要意义。关键词:

3、Y 染色体; 短串联重复序列; 单倍型; 遗传多态性; 遗传距离Polymorphism of 17 Y-STR loci in Shanxi Han population and geneticrelationship with 13 populationsSHI Mei-Sen, BAI Ru-Feng, FU BoKey Laboratory of Evidence Science, Ministry of Education, China University of Political Science and Law, Beijing 100088, ChinaAbstract: To

4、 investigate the genetic polymorphisms of 17 Y-chromosomal short tandem repeats (Y-STR) loci in ShanxiHan population and to explore their forensic application values and genetic relationship with neighboring populations, 17Y-STR in 222 unrelated healthy Shanxi Han individuals were amplified with Y-f

5、ilerTM System, and the PCR products were detected with 3130 Genetic Aanalyzer. The allele frequencies and haplotype diversity were calculated. Y-STR data of an- other 13 populations were collected from publications. Cluster analysis and phylogenic trees were applied to show the ge- netic distance am

6、ong the populations. As a result, a total of 219 haplotypes were identified, and the observed haplotypes diversity value was 0.9999. The gene diversity values (GD) for each locus ranged from 0.3894 (DYS391) to 0.9755 (DYS385a/b). Comparing with 13 populations, the genetic distance between Shanxi and

7、 Jihei Han populations was the smallest (-0.0001), while the genetic distance between Shanxi and Taiwan population was the largest (0.0152). The phy- logenetic tree was similar to the results of clustering analysis. Multiplex detection of the 17 Y-STR loci revealed a highly polymorphic genetic distr

8、ibution, which would be very powerful for establishing a Y-STR database, for population geneticsand forensic practice.Keywords: Y-chromosome; short tandem repeats; haplotype; genetic polymorphism; genetic distance收稿日期: 2010-07-01; 修回日期: 2010-10-20基金项目: 国家自然科学基金青年项目(编号：30801320), 教育部科学技术研究重点项目(编号：109

9、037)和教育部新世纪优秀人才支持计划(编号：NCET-10-0773)资助作者简介: 石美森, 副教授, 研究方向：法医物证学、群体遗传学。E-mail: shimeisen2000Y 染色体短串联重复序列(Short tandem repeats,Y-STR)的单倍型父系遗传特点, 在人类的起源、进 化和群体划分研究及法医学实践中具有重要而独特的应用价值 15 。目前 , 国内学者相 继报道了基 于Powerplex Y 系统的 12 个 Y-STR 基因座群体调查数1.2方法1.2.1PCR 扩增及毛细管电泳检测TM采用 Y-filer试剂盒, 扩增使用 PE9700 型扩增仪, 10

10、L 扩增体系, 含 Y-filer PCR Reaction mix5.52 L, 引物 3.0 L, Ampli Taq GoldTM DNA (5 U/L) 0.48 L, 模板 DNA 0.51 ng, 补水 至10 L。PCR 热循环条件为: 95预变性 11 min,30 个循环中每循环 94变性 1 min, 61复 性1 min, 72延伸 1 min; 最后 60延伸 80 min,4保存。采用 3130 全自动遗传分析仪进行扩增 片段的电泳分离与检测, GeneMapper IDv 3.1 软件分型。据620,从中发现部分 Y-STR 基因座(如 DYS437、DYS438、

11、DYS391 等)所检测到的等位基因数目相对较少(24 之间), 等位基因频率相对集中(0.5), 多 态性分布较 差, 虽然依靠多基因座 检测的单倍 型表现积累了较高的 GD 值, 尚不足以实现同一认定。因此尽可能联合检测更多稳定性好、多态性高 的Y-STR 基因座以获得系统更高的鉴定能力, 是进行 群体遗传学研究和法医学应用的前提和基础。本文选择包含 17 个 Y-STR 基因座的 Y-filerTM 试剂盒(DYS19、DYS389I、DYS389II、DYS390、DYS391、 DYS392 、 DYS393 、 DYS437 、 DYS438 、 DYS439 、 DYS385a/

12、b 、 DYS448 、 DYS456 、 DYS458 、 DYS635和 Y-GATA-H4), 对 222 个山西汉族无关男性个体血样进行遗传多态性调查, 通过与其他 13 个群体相关 数据的比较分析, 为该群体的法医学应用、遗传关系的分析提供基础数据。1.2.2数据处理采用 Arlequin v3.1 软件进行 AMOVA 分析, 计算 14 个群体间的遗传距离 Rst 矩阵; 根据净遗 传距离用 PHYLIP 3.62、Treeview 软件重建 14 个 群体相邻连接(Neighbour-Joining, NJ)系统发生树。2结果与分析2.1山西汉族男性群体 17 个 Y-STR

13、基因座遗传多态性在 222 名山西汉族无关男性个体中, Y-filerTM 试剂1材料和方法1.1研究对象根据知情同意原则,随机采集3 代以上居住在盒中的各基因座都得到了有效扩增, 且各基因座间扩增产物平衡, 扩增片段长度均在 100340 bp 之间。DYS385a/b 基因座检出 52 种单倍型, 其余 15 个基因座 共检出 115 个等位基 因 , 等位 基因 频率分布 在0.00450.7613 之间, 基因多样性在 0.3894 (DYS391)0.9755(DYS385a/b)之间, 除了 DYS391, 其余基因座 的基因多样性均大于 0.5。由 17 个 Y-STR 基因座组

14、成的 YH 系统单倍型共检出 219 种(表 1), 单倍型多样性 0.9999, 表明该系统具有较强的非父排除能力 和较强的个体差异。山西省太原市的 222 份汉族无关男性个体外周血,每人采静脉血 2 mL, 5% EDTA 抗凝, 5% Chelex-100快速提取法提取 DNA21。由于具备 17 个 Y-STR 完整单倍型资料的群体极 为有限, 故以获得的四川、东北、东北(以吉林、黑龙江为主)、粤南、潮汕、闽南、云南、湖南、河南、天津、浙江等 11 个主要汉族及香港、台湾群体的 12 个Y-STR 单倍型(“扩展单倍型”+DYS437) (共 2 537 个样 本)作为山西汉族群体遗传

15、关系分析的比较数据618。表 1山西汉族男性 17 个 Y-STR 基因座单倍型及基因多样性 GD 值 (N=222)17 个 Y-STR 基因座单倍型 DYS频率DYSDYSDYSDYSDYSDYSDYSDYSDYSDYSDYSDYSDYSDYSY-GATA19389I389II390391392393385438439437448456458635H4H1H214161212282818241010910121213,2114,18101112141515202015161918252011100.00450.0045230HEREDITAS (Beijing) 2011第 33 卷(续表

16、 1)17 个 Y-STR 基因座单倍型 DYS频率DYSDYSDYSDYSDYSDYSDYSDYSDYSDYSDYSDYSDYSDYSY-GATA19389I389II390391392393385438439437448456458635H4H3H4H5H6H7H8H9H10H11H12H13H14H15H16H17H18H19H20H21H22H23H24H25H26H27H28H29H30H31H32H33H34H35H36H37H38H39H40H41H421314151616141415141714151415151515141414151415141513151516151516

17、151616141615151414121212131213151313141212121312121213121212121214141414131212121112121213141313302829282931293130303130283028292929292828282729303030273029282827282827283028292424252523242123232223252423252323252523242324232324242023232425242526232224242410101010101010111010111010101010101010101010

18、1010109101011101011101110101110101014131313151314111413131414121314131413151514131214141391112131013131313141310151412121214121213131213121212151312121212121214121314121313121212141212121214121315,2114,1712,1912,1711,1515,1811,1411,1711,1411,2011,1313,1813,1812,1812,2112,1312,1813,2013,1813,1712,171

19、3,2114,1712,1711,1315,2213,2114,1611,1412,1813,1912,1215,2012,1814,1713,1711,1112,1911,1112,1312111010101010101010101111101010101111111011108111210111210111010101011101010101112111210111211121211111211121311111112121211131211131211131212111211121112111114151414141414141414141515151414151415151515151

20、514141514141415141414141515141514192020192420192119191920201918181820202019191919191919202020201918182020191819191615131416141615151516151515151515151616151516151516151516151414151415151615161516191817161817151418181717181615161717171918171716161815151817171919181819161716222023232122212022232120201

21、92221222020212222211922222125232320222322242020212121101212121211111112111112121212121312131212121211121011131211121310111313121311120.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.004

22、50.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.0045(续表 1)17 个 Y-STR 基因座单倍型 DYS频率DYSDYSDYSDYSDYSDYSDYSDYSDYSDYSDYSDYSDYSDYSY-GATA19389I389II390391392393385438439437448456458635H4H43H44H45H46H47H48H49H50H51H52H53H54H55H56H57H58H59H60H61H62H63H64H65H66H67H68H69H70H71H72H73H74H75H7

23、6H77H78H79H80H81H82H8314161416161615131316141415131416141616161515141515141714151515151714151416151416171312131213141214141412131212131415141313121212121213131213121213121212141212121312292728283030283030302730272729303230282829272727282929282928282928282829282828302923242424232423242424242323242224

24、23232222232324242323232424222525252223232523252225101010101010109910101091010101010111110101010101010101010101110101011101010111014131413111112161313121112141111131291012131414121511141312131713141211131371613131212121415121413121215121212131312121212131312121314121212121212121314121312151212,1313,2

25、113,1813,1711,2111,1912,1316,2115,2313,2111,1511,1112,1713,2012,1611,2111,1312,2011,1111,1112,1612,1614,1913,1712,1613,1311,1113,1712,2012,1712,1812,1612,2012,1913,1611,1314,1813,2013,1912,1916,2010101110101010121010101010119131112101010101111101010111011101010111011101010101011131411111112111111131

26、112121214121391111121311121211131212121112111210111112111014151515151415141415151415151514151715151514141515141415151414151414141414151514141920202121211919191919201920222019202019191921202019211919191820191919192020202122151516151515151617161516151515151615161615151516151515151415141614151514151615

27、1514162017161615181716201815181915151616161819181715171715181618162017171817191919151821212020212120222221212119202323222121211920202119212021211921212021212223202321211111131211111210911111111121112121212121112111212121112101212111212111112121111110.00450.00450.00450.00450.00450.00450.00450.00450.0

28、0450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00900.00450.00450.0045232HEREDITAS (Beijing) 2011第 33 卷(续表 1)17 个 Y-STR 基因座单倍型 DYS频率DYSDYSDYSDYSDYSDYSDYSDYSDYSDYSDYSDYSDYSDYSY

29、-GATA19389I389II390391392393385438439437448456458635H4H84H85H86H87H88H89H90H91H92H93H94H95H96H97H98H99H100H101H102H103H104H105H106H107H108H109H110H111H112H113H114H115H116H117H118H119H120H121H122H123151215151515151515161515141516161414131314131714121618131516141415121515161415141212111414121213131213

30、131413121412141212121212121312121212131412121413121414121227282730303030302928292929312930292826282830282928282925313227272729292827332934212323232323242323252324232425232424232523242424232523242424242424202323262323221010111011111010101010101110101010910111010111011101010111091010101010101010109141

31、2111312151412131514171413813131013131214121113159141312913141412141212101211121514121211121213121412121412141212121212121312121212151212121314121312121511,1110,1312,1611,1912,1712,1613,2016,1612,1312,1912,1312,1511,1314,2116,1613,2113,2015,2212,1212,1913,2012,2012,1813,1611,1812,1712,1210,1313,2011,

32、1813,1911,1313,1915,1812,1812,1716,2214,2012,1513,1810121010111010111110101111101010111210101110101110101010101081110101010131010131112121113139131212111210141191191112111313129121115131311121212111214131411141714141415151615141414141515141414151414151415141415151314141515141415141415152022192018192

33、319201919201921192020202319201920201919192020212420202118202320232015151514171515161614161914131517151515141617161515151516131516161515151614161515171916151618161519201618181719171716191917161818181917201617141719181619151715172123212221222223232421212122222120222322202220202522232121232121212021212

34、6212524121012111212129111111121212111013108101210111212119101211101011101211101111120.00450.00450.00450.00450.00450.00450.00450.00450.00450.00900.00900.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.00450.0045

35、0.00450.00450.00450.0045(续表 1)17 个 Y-STR 基因座单倍型 DYS频率DYSDYSDYSDYSDYSDYSDYSDYSDYSDYSDYSDYSDYSDYSY-GATA19389I389II390391392393385438439437448456458635H4H124H125H126H127H128H129H130H131H132H133H134H135H136H137H138H139H140H141H142H143H144H145H146H147H148H149H150H151H152H153H154H155H156H157H158H159H160H1

36、61H162H163H16415151514151419151412121515151514151414151614151415131514171714151813141413171417151213141212131212141312141413141313141211131212141313131212131212121213141313141212302931282927272831313431302932242731272926272725272434272829282832322730292925313226242325232426252321202323232524242324252324242323242323242223232325232321232523231110111111111011109101010910101010101010101010109913101011911101011101011101110101413141412131710101111121310101491415148141214121413131111121115151613121314121213121213121