山东汉族17个Y染色体STR遗传多态性调查及姓氏渊源研究

发布时间：2018-04-04 16:30

本文选题：Y染色体STR　切入点：遗传多态性　出处：《辽宁医学院》2011年硕士论文

【摘要】：目的 1、完善山东地区汉族人群17个Y染色体STR多态性基础数据,评价Y-STR基因座个体识别能力,为计算亲权概率和个人识别率提供数据支持。 2、以山东胶东、鲁中、鲁北、鲁南、鲁西地区汉族人群为研究对象,比较不同亚群间17个Y染色体STR的多态性差异,探讨山东省不同地区人群间是否存在明显的亚群结构及不同地区之间人群迁移、融合问题。 3、完善山东地区张、王、李、赵、刘、陈、孔、孟、O@、么十家姓氏17个Y染色体STR多态性基础数据,分析十家姓氏谱系渊源关系,尝试探讨O@姓、么姓姓氏的起源问题及不同姓氏人群间人群迁徙、基因融合及亲缘关系情况,记录、保护我国姓氏传统文化,进而辅助考古学相关研究。方法 1、在知情同意下,随机选取山东省胶东、鲁中、鲁北、鲁南、鲁西五个地区为调查点,获得909例受检者干血血样样本;采集山东省内张、王、李、赵、刘、陈、孔、孟、O@、么不同姓氏人员样本1086例。 2、采用《GA/T 383-2005》中Chelex-100法提取干血DNA,使用AmpFLSTR Y-filerTM复合扩增试剂盒扩增17个荧光标记的基因座, ABI 3130XL Genetic Analyzer遗传分析仪毛细管电泳,ABI GeneMapper ID software V3.2软件分析遗传分析仪电泳数据,操作过程符合法庭科学DNA操作规范。 3、使用PowerMarker V 3.25软件计算山东总体人群基因多样性、单倍型多样性及多态性信息含量等法医物证学参数,对山东省胶东、鲁西、鲁中、鲁南、鲁北五个地区人群间等位基因频率分布差异的情况予以Chi-square test分析, Hardy-weinberg平衡检验评价Hardy-weinberg平衡情况,利用PowerMarker V3.25软件Classic F-Statistics选项对山东五个个地区的样本进行分子方差分析(AMOVA),评价变异主要来源。对于姓氏谱系渊源关系研究首先使用PowerMarker软件计算不同姓氏人群17个Y-STR基因座的等位基因频率,Chi-square test分析评价O@姓、么姓人群与山东省汉族人群等位基因频率分布的差异,使用PowerMarker V3.25软件对十家姓氏人群遗传距离分析,分析方法为Shared Allele法,并根据遗传距离分析建立十家姓氏人群NJ系统发生树。结果 1、909例受检样本各基因座都得到了有效的扩增, 17个Y染色体STR基因座的遗传多态性研究显示,17个Y-STR除DYS391(GD=0.4861)在鲁西地区人群中识别能力较低,其余基因座的GD值都大于0.50,表明17个Y-STR系统在山东地区汉族中具有丰富的遗传多样性和较高的个人识别能力。在909例不同的个体中,17个基因座单倍型频率为0.9997,适合用于法医学实际检案中的父权鉴定和个体识别。 2、山东地区汉族人群与其他地区人群、民族等位基因频率比较,与西藏地区藏族、广西黑衣壮族、南通地区汉族显著差异较明显。与秘鲁、波兰、塞尔维亚、马来西亚印度人比较等位基因频率分布上差异更加明显。以山东省胶东、鲁西、鲁中、鲁南、鲁北五个地区划分山东省人群群体亚群结构各地区等位基因频率总体上差异不明显,只有部分位点在不同地区间存在明显差异(P值㩳0.05)。Hardy-weinberg平衡检验发现总体上符合哈德-温伯格平衡,无明显证据显示这些地区存在大规模人口迁移。分子方差分析(AMOVA)显示变异差异的产生生与各个群体关系甚小,主要是由群体内部造成的。 3、山东地区张、王、李、赵、刘、陈、孔、孟、O@、么十家姓氏人群17个Y-STR基因座的等位基因频率分布与山东人群分布总体上相似。O@姓人群、么姓人群与山东省汉族人群等位基因频率分布差异Chi-square test分析显示,O@姓群体比较所得15个P值有3个存在显著性差异(P值㩳0.05),显著差异占20%。幺姓群体中比较所得15个P值有2个存在显著性差异(P值㩳0.05),显著差异占13.33%。山东省十家姓氏人群遗传距离及NJ系统发生树分析显示,O@姓人群与赵姓人群遗传关系较近,且同属于单独一支,这说明O@姓人群与赵姓人群之间存在一定的基因交流,提示O@姓人群在姓氏起源方面很可能与赵姓人群存在很大的渊源关系。么姓人群与王姓人群、刘姓人群遗传关系较近,其遗传学意义如O@姓人群。从NJ系统发生树来看,山东省张、王、李、赵、刘、陈、孔、孟、O@、么十家姓氏遗传关系主要分为三支,O@姓、赵姓人群遗传关系较近，为第一支。李姓、孟姓人群遗传关系较近,为第二支。其余张姓、王姓、刘姓、陈姓、孔姓、么姓人群遗传关系较近,为第三支。本研究利用NJ系统发生树客观的反映了张、王、李、赵、刘、陈、孔、孟、O@、么十家姓氏遗传渊源关系。结论 1、本研究实验证明,山东地区汉族群体17个Y-STR基因座除DYS391外,其他具有丰富的遗传多态性、个体识别能力,17个基因座组成的单倍型频率一定程度上能够满足我国法医办案的实际需要。经本研究及其他文献报道,DYS391在山东省内及我国其他地区人群中GD值偏低,不适合我国法医学实际应用。 2、该研究统计分析了山东省胶东、鲁中、鲁南、鲁北、鲁西地区汉族人群17个Y-STR基因型基因频率,为进一步计算人识别率和排除率提供数据支持,奠定Y-STR基因座多态性在法医物证学应用的基础,同时为其他学者研究群体遗传问题提供数据参考。 3、山东地区人群与地区、民族人群等位基因频率分布比较发现,部分基因座上等位基因频率分布具有有显著性差异,说明这些群体的遗传背景具有相对的独立性和特殊性,在应用Y-STR进行个体识别和亲权鉴定时,必须使用相应的群体资料。 4、山东省胶东、鲁中、鲁南、鲁北、鲁西地区人群符合Hardy-Weinberg平衡,通过亚群结构分析得出,山东省五个行政区域人群基本上没有形成亚群结构,无明显证据显示五个地区间存在大规模人口迁移,五个个地区的群体基本可共享DNA数据库。 5、姓氏渊源关系研究表明,十家姓氏群体Y染色体等位基因频率分布呈现出一定的多态性,等位基因频率分布总体趋势上与山东汉族人群频率分布趋势没有明显的区别,不同姓氏群体间基因集合存在融合现象。 6、本研究利用NJ系统发生树客观的反映了张、王、李、赵、刘、陈、孔、孟、O@、么十家姓氏遗传渊源关系，，在稀有姓氏人群数量日益减少的背景下，真实的记录、保存了稀有姓氏群体遗传学参数。通过对不同姓氏遗传关系的研究得出,O@姓人群与赵姓人群遗传关系较近，么姓人群与王姓人群、刘姓人群遗传关系较近,其意义有待考古学、历史学进一步考证。本实验证明可以通过姓氏与Y染色体多态性的研究勾画出姓氏间相互交叉的遗传关系,寻找共同的生物学祖先。
[Abstract]:objective
1, we should improve the basic data of 17 Y chromosome STR polymorphisms in Shandong Han population, evaluate the ability of Y-STR loci to identify individuals, and provide data support for calculating paternity probability and personal recognition rate.
2 in Shandong, Jiaodong, Shandong, Shandong, Shandong, Han population in Luxi area as the research object, the difference between the different Ya Qun polymorphism of 17 Y chromosome STR, fusion of population in different areas of Shandong province between population structure and different regions between the subsets of obvious migration.
3, improve the Shandong region Zhang, Wang, Li, Zhao, Liu, Chen, hole, Meng, O@, what the ten surnames of 17 Y chromosome polymorphism of STR based data, an analysis of ten surnames genealogy origin relations, attempts to explore the O@ name, the origin of the surname surname Mody and different surnames among the population migration gene fusion and genetic relationship, records, the protection of China's traditional culture and surname, supporting research archaeology.
Method
1, informed consent, randomly selected from the Shandong province of Jiaodong, Shandong, Shandong, Shandong, Shandong five areas for investigation, 909 cases of subjects dry blood samples collected in Shandong province; Zhang, Wang, Li, Zhao, Liu, Chen, hole, Meng, O@, different surname staff. In 1086 cases.
2, the extraction of dried blood DNA by Chelex-100 , AmpFLSTR Y-filerTM loci using multiplex amplification kit amplified 17 fluorescent marker, ABI 3130XL Genetic Analyzer genetic analyzer for capillary electrophoresis, genetic analyzer ABI GeneMapper ID software electrophoresis data analysis software V3.2, the operation process according to the forensic DNA operation.
3, calculation of Shandong general population genetic diversity using PowerMarker V 3.25 software, haplotype diversity and polymorphism information content of forensic parameters in Shandong Province, Jiaodong, Shandong, Shandong, Shandong, among five regions between the Lubei allele frequency differences in the Chi-square test analysis, Hardy-weinberg balance test evaluation Hardy-weinberg balance, molecular variance analysis of the Shandong five all regions of the sample using the PowerMarker V3.25 software Classic F-Statistics option (AMOVA), the main source of variation evaluation. For the study of the relationship between surname genealogy origin first use PowerMarker software to calculate the different surnames of 17 Y-STR allele frequency, Chi-square test analysis and evaluation of the O@ name, surname. With the population of Han population in Shandong province allele frequency differences, the use of PowerMarker V3.25 software on the ten The genetic distance analysis of the surname population was analyzed by Shared Allele method, and the genetic distance analysis was used to establish the NJ phylogenetic tree of ten family names.
Result
1909 cases were examined samples of each loci have been effective amplification, genetic polymorphisms of 17 Y chromosome STR loci, 17 Y-STR in DYS391 (GD=0.4861) in Luxi population low recognition ability, the other loci GD value is greater than 0.50, indicating that the 17 Y-STR system with diversity the rich genetic and high personal recognition ability in Shandong Province. In 909 cases of different individuals, 17 loci haplotype was 0.9997, suitable for paternity testing and individual identification in forensic practice.
2, Han nationality in Shandong and other areas, the comparison between national allele frequency and area of Tibet Tibetan, Guangxi Hei Yi Zhuang, Nantong Han significant difference was obvious. With Peru, Poland, Serbia, Malaysia, India comparison of allele frequency distribution differences were more pronounced. In Shandong Province, Jiaodong, Shandong, Shandong five, Lunan, Lubei region in Shandong province population subgroup structure of each region allele frequency difference is not obvious, only some sites exist obvious differences between different regions (P? 0.05).Hardy-weinberg balance test found with Bernhard Weinberg equilibrium in general, no obvious evidence of the existence of these large-scale population migration area. Analysis of molecular variance (AMOVA) showed variation difference generated with each group relations is very small, is mainly caused by the internal groups.
3, Shandong Zhang, Wang, Li, Zhao, Liu, Chen, hole, Meng, O@, what the ten surnames of 17 Y-STR loci allele frequency distribution similar to Shandong population distribution on the whole.O@'s population, the difference of Chi-square test analysis showed that the allele frequency distribution of population in Shandong province and it is Han population, O@ surname group is obtained for 15 P value 3 there was a significant difference (P =? 0.05), significant differences in income accounted for 20%. one caste groups 15 P 2 there were significant differences (P? 0.05), significant differences accounted for 13.33%. in Shandong Province ten surname people's genetic distance and NJ phylogenetic tree analysis showed close genetic relationship between the population and population O@ surname surnamed Zhao, which belong to a single, indicating the existence of certain gene exchange between populations and population O@ surname surnamed Zhao, suggesting that O@ surname population in the origin of surnames is likely to exist great relationship with Zhao name of the crowd. What the crowd and the Wang surname population, near Liu population genetic relationship, the genetic significance such as O@ name from the tree crowd. NJ system, Shandong Province, Zhang, Wang, Li, Zhao, Liu, Chen, hole, Meng, O@, ten Mody family name genetic relationship is mainly divided into three branches, O@ surname that close genetic relationship between the surnamed Zhao people, for the first branch. Lee, close genetic relationship between the second. People surnamed Meng, Wang, Liu, Zhang rest,, Chen, Kong, close genetic relationship between what surname crowd, third. This study uses the NJ phylogenetic tree objectively reflects the. Wang, Li, Zhao, Liu, Chen, hole, Meng, O@, ten Mody family name genetic relationship.
conclusion
1, this study proved that the experimental area of Shandong, 17 of Y-STR gene in Chinese Han population base in addition to DYS391, the other had abundant genetic polymorphism, individual identification, 17 loci haplotype frequency components to a certain extent can meet the practical needs of China's forensic case. Through this study and other reports in the literature, DYS391 Shandong province and other regions of our country population GD value is low, is not suitable for our forensic application.
2, the research on statistical analysis of Shandong Province, Jiaodong, Shandong, Shandong, Shandong, Shandong Han population 17 Y-STR genotype frequency, to calculate the recognition rate and the removal rate of people to provide data support, lay the foundation for the polymorphism of Y-STR locus in forensic applications of evidence, and to provide reference data for other scholars study on population genetic problems.
3, the population of Shandong area and the area, the national population allele frequency comparison, some loci allele frequencies distribution has significant difference, indicating that the genetic background of these groups has relative independence and the special nature, individual identification and paternity testing in the application of Y-STR, must use the corresponding group the data.
4, Shandong Province, Jiaodong, Shandong, Shandong, Shandong, Luxi population with the Hardy-Weinberg equilibrium, through subpopulation structure analysis, five administrative regions in the population of Shandong province basically did not form the subpopulation structure, no obvious evidence of large-scale population migration between the five regions, each region five basic groups shared DNA database.
5, study on the relationship between the origin of surname shows that ten surname group of chromosome Y allele frequency distribution showed a certain polymorphism, allele frequency distribution of the overall trend and frequency distribution in Shandong Han population trends have no obvious difference, different groups of gene sets are surname fusion phenomenon.
6, this study uses the NJ phylogenetic tree objectively reflects the Zhang, Wang, Li, Zhao, Liu, Chen, hole, Meng, O@, ten family name genetic origins, the dwindling number of rare surnames in the background, the real record, save the rare surname population genetics parameters through. Study on the genetic relationship between different surnames that close genetic relationship between the O@ group and surname surnamed Zhao surname Wang and people, what people crowd, close to Liu population genetic relationship, the significance for the study of ancient times, history of further research. This experiment can prove that the genetic relationship between the cross through the study of the polymorphism of surnames and Y sketch the surname of chromosome, looking for biological common ancestor.

【学位授予单位】：辽宁医学院
【学位级别】：硕士
【学位授予年份】：2011
【分类号】：R394

【参考文献】