Y染色体O1单倍群SNP位点在广西六个民族中遗传多态性

发布时间：2018-06-20 13:21

本文选题：Y-SNP + Y-STR　；参考：《昆明医科大学》2017年硕士论文

【摘要】：[目的]Y染色体有效种群大小仅为常染色体的1/4,非重组区(non-recombining region,NRY)严格遵循父系遗传规律,对遗传漂变较敏感。Y-SNP突变率较低,可以方便进行大尺度的族源谱系判别;Y-STR突变率高,具有一定的多样性,在亲子鉴定中应用于父子、叔侄等父权鉴定;法医应用中,Y-SNP和Y-STR的有效配合,可以快速锁定家系,缩小排查范围,对混合斑样本男性成分进行辨别:群体遗传学中计算群体扩张时间,对人群来源进行推断,应用于法医学领域针对少数民族遗传成分描述及案件现场遗留的男性检材个体种族来源推断。[方法]采集广西地区六个民族(汉族、侗族、京族、苗族、瑶族、壮族)男性无关健康个体血样399份,采用QIAGEN公司MagAttract(?)DNA Mini M48 DNA Kit试剂盒提取样本DNA,-80℃保存。将广西六个民族399份无关男性样本分两个体系进行检测:核心单倍群体系(C-M130,D-M174,F-M89,G-M201,J-M304,K-M9,N-M231,O-M175,Q-M242,R-M207,O1-F265,O2-CTS10736);O1 单倍群体系(O1a-M119,O1a1a-M307.1,O1alb-CTS5726,O1a1a1a-F140,O1a1a1b-SK1568/223420,O1a1a1a1-F78,O1a1a1b1-M101,O1a2a-F3288,O1a2a1-238606,O1b-M268,O1b1-F2320,O1b1a-M1470,O1b1a1-PK4,O1b1a1a-M95,O1b1a2-Page59,O1b1a1b-F838,O1b1a1a1-F1803/M1348,O1b1a1b1-F1199,O1b2a-F1204,O1b2a1-CTS713,O1b2a3-CTS 10687,O1b2b-CTS562,O1b1a2b-F417,O1b2a-F1942)采用Snapshot技术进行快速SNP分型,Y-STR分析应用Rv.3.2.3。XLSTAT软件、network 5.0.0.0等软件进行数据统计分析。[结果]12个Y-SNP核心体系在广西六个民族399个无关男性个体中,少量样本落在D单倍群(1.5%)中,以苗族为主的样本落在C单倍群(15.2%)中,一份京族样本拥有F-M89古老单倍群类型,一份壮族样本拥有J单倍群突变,3份样本落在N单倍群中,广西六个民族中绝大多数样本(81.9%)属于O单倍群。其中49.1%的样本落在O1单倍群中,32.8%的样本落在02单倍群中;挑选出196份拥有O1-F265突变的样本进行01体系检测,少量(14.7%)样本落在Ola单倍群中,大部分样本(85.2%)落在O1 b单倍群中。基于两个体系位点信息对广西六个民族进行主成分分析,核心体系中将广西瑶族与其他民族分开,使用O1体系中六个民族聚为两簇,广西汉族与广西侗族聚类,其他民族聚类在一起,将36个SNP位点共同进行主成分分析时,与核心分析相比,除瑶族外其他民族可以较为区分。加入邻近地区其他民族,包括汉藏语系藏缅语族、苗瑶语族、侗台语族以及南亚语系和阿尔泰语系有代表性的民族进行主成分分析发现;图中分为两个聚类簇:藏缅语族人群聚在一起,苗瑶语族与南亚语系人群聚为一簇,本研究结果与南亚语系距离较近;阿尔泰语系人群零散分布与藏缅语族人群呈现南北地域分布情况.在网络分析中C-M130分散出三个方向,种族关联性结构在图中并不明显,广西瑶族中高频存在并且与其他民族没有明显的基因交流;O1单倍群中Ola-M119中心节点由广西汉族、广西侗族以及广西京族构成,下游位点Olalala-F140的突变情况说明最近的基因交流在广西京族和广西壮族中进行,O1单倍群的另一分支人口扩张发生在Olblala-M95中,M95网络图中各个族群均有基因交流但是没有明显分层扩展结构;O2-CTS10736分支需要继续细分,遗传交流及分层结构没有O1单倍群明显。[结论]本课题基于单点扩增SNapshot技术成功构建了 Y染色体O1单倍群复合扩增体系,可在短时间内完成24重Y-SNP检测,在降低成本同时提高检测效率,该技术可推广应用于省市各级法医遗传学实验室;对于检测样本可以进行群体区分;对同一单倍群下的STR分型进行分析,进一步探讨群体间的遗传关系。C单倍群中瑶族人群占有绝大比例,广西六个民族在C单倍群的突变情况分散为三个分支并且期间较少有基因交流,古老单倍群丢失导致未构成年轮分布网络图。O1blala-M95在各个民族中尤其是广西壮族、广西苗瑶以及广西京族中有高频分布。
[Abstract]:[Objective]Y chromosome effective population size is only autosomal 1/4, non recombinant region (non-recombining region, NRY) strictly follow the paternal genetic rule, the genetic drift more sensitive.Y-SNP mutation rate is lower, can be convenient for large scale family genealogical discrimination, Y-STR mutation rate is high, with a certain diversity, in parent-child identification application Father and son, nephew and so on paternity identification; in forensic application, the effective coordination of Y-SNP and Y-STR can quickly lock the family, narrow the scope of the investigation, identify the male components of the mixed spot sample: the population genetics is used to calculate the population expansion time and infer the source of the population. It should be used in the field of forensic science to describe the genetic components and cases of ethnic minorities. [Methods] to collect 399 copies of unrelated healthy male blood samples from six ethnic groups (Han, Dong, Jing, Yao and Zhuang) in Guangxi, which were collected from six ethnic groups (Han, Dong, Beijing, Miao, Yao and Zhuang). The samples were extracted by QIAGEN MagAttract (?) DNA Mini M48 DNA Kit kit and preserved at -80. 399 men were unrelated to men. Sex samples are divided into two systems: C-M130, D-M174, F-M89, G-M201, J-M304, K-M9, N-M231, O-M175, Q-M242, R-M207, O1-F265, O2-CTS10736). O1b1-F2320, O1b1a-M1470, O1b1a1-PK4, O1b1a1a-M95, O1b1a2-Page59, O1b1a1b-F838, O1b1a1a1-F1803/M1348, O1b1a1b1-F1199, O1b2a-F1204, O1b2a1-CTS713, O1b2a3-CTS 10687. Data statistical analysis. [results]12 Y-SNP core system is in 399 unrelated male individuals of six ethnic groups in Guangxi. A small number of samples fall in the D haploid group (1.5%), and the Miao based samples fall into the C unfold group (15.2%). One sample of Beijing has an ancient F-M89 group type of F-M89, a sample of Zhuang nationality has a J haploid group mutation and 3 samples fall in N In the haploid group, most of the six ethnic groups in Guangxi (81.9%) belong to the O haploid group, of which 49.1% of the samples fall in the O1 haploid group, and 32.8% of the samples fall into the 02 haploid group; 196 samples of O1-F265 mutations are selected for the 01 system detection, and a small amount (14.7%) falls in the Ola haploid group, and the majority of the samples (85.2%) fall on the O1 B haploid group. Based on two system site information, six ethnic groups in Guangxi are analyzed by principal component analysis. The core system separates the Guangxi Yao from other ethnic groups, six nationalities in the O1 system are clustered into two clusters, Guangxi Han and Guangxi Dong ethnic group are clustered and other ethnic groups are clustered together to analyze the 36 SNP loci together with the core analysis. In addition, other ethnic groups except the Yao nationality can be more distinguished. Join other ethnic groups in the adjacent areas, including the Tibetan and Tibetan Languages of the Han and Tibetan Languages, Miao and Yao languages, Dong Tai languages, and the representative ethnic groups of the South Asian and Altai languages. The map is divided into two cluster clusters: the Tibetan and Burmese ethnic groups gather together, Miao and Yao languages and South Asia. The population of the language family is clustered in a cluster. The results of this study are close to the South Asian family. The scattered distribution of the Altai language population and the Tibetan Burmese people present the distribution of the north and South regions. In the network analysis, the C-M130 is scattered in three directions. The ethnic Association structure is not obvious in the map. The high frequency of the Guangxi Yao ethnic group exists and is not clear to the other ethnic groups. The Ola-M119 central node of the O1 haploid group is composed of Guangxi Han, Guangxi Dong and Guangxi Jing nationality. The mutation of the downstream loci Olalala-F140 shows that the recent gene exchange is carried out among the Guangxi and Guangxi Zhuang people, and the other branch of the O1 haploid group expands Zhang Fasheng in Olblala-M95, each of the M95 network maps. The group had genetic communication but no distinct stratified expansion structure; O2-CTS10736 branch needs to be subdivided, genetic communication and stratified structure have no O1 haploid group. [Conclusion] this topic based on single amplification SNapshot technology successfully constructed the Y chromosome O1 multiplex amplification system, which can complete 24 heavy Y-SNP detection in a short time. Low cost at the same time improve the detection efficiency, the technology can be applied to the provincial and provincial forensic genetics laboratory; the detection sample can be divided into groups, and the STR classification under the same haploid group is analyzed, and the large proportion of the Yao people in the population of the genetic relationship.C in the group is further explored, and the six ethnic groups in Guangxi are doubled in C. The mutation of the group is divided into three branches and there are few genetic exchanges during the period. The loss of ancient haploid group leads to a network map that does not constitute a ring distribution network (.O1blala-M95) in various ethnic groups, especially the Guangxi Zhuang, Guangxi Miao Yao and Guangxi Jing nationality.
【学位授予单位】：昆明医科大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：D919

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