河南汉族人群15个STR基因座遗传多态性及潮汕人的中原汉族起源

发布时间：2018-05-09 13:23

本文选题：群体遗传学 + 短串联重复序列　；参考：《汕头大学》2008年硕士论文

【摘要】：背景:短串联重复序列(short tandem repeat,STR)或称微卫星DNA重复序列(microsatellite),是一类广泛存在于人类基因组中由2～6个碱基作为核心单位串联重复形成的具有长度多态性的DNA序列。STR分布广,数目多,其核心单位的数目变化和重复次数不同,构成了STR的遗传多态性。研究STR多态性,可以从分子生物学角度揭示人类的起源、迁移、进化等历史进程。潮汕僻处我国的东南隅,广东省的最东端,与福建省毗邻,其地域包括今天的汕头、潮州、揭阳三个地级市。对应的潮汕人指居住于该区域并有自己独特方言和生活习惯的汉族民系。史料记载现代潮汕人源自古中原汉族。我们前期的关于潮汕人群的HLA(Human leucocyte antigen)遗传多态性研究,旨在从分子生物学角度验证潮汕人群起源于中原汉族的假设,研究结果尚不能为潮汕人的中原汉族起源提供遗传学上肯定的证据。目的:在DNA水平上研究河南人群的遗传多态性,深入探究潮汕人的中原汉族起源。方法:采用荧光标记PCR和毛细管电泳相结合的技术对河南汉族200例健康人群的15个STR基因座遗传多态性进行研究,以及对潮汕、河南、闽南三个汉族人群Penta D、Penta E两基因座的遗传多态性进行研究,结合本课题组已发表潮汕人群STR数据并新增样本(数据未发表)以及搜集到的发表在国内外刊物的其它地区人群STR数据,Phylip软件计算不同人群间的遗传距离,构建高分辨率进化树,探讨潮汕人群的中原汉族起源及与其它人群之间的关系。结果:河南汉族人群15个STR基因座共检出142个等位基因451种基因型,潮汕、河南、闽南三个汉族人群Penta D、Penta E两基因座检出的等位基因和基因型个数分别为27和116、28和117、26和95。其观察值与期望值经精确检验,除了河南人群D3S1358(P =0.04)基因座外,其他人群的基因座基因型均无显著性差异(p 0.05),符合Hardy-Weinberg平衡。选取CODIS系统STR基因座的人群数据聚类分析结果显示潮汕汉族离闽南汉族很近,距河南汉族较近;融合分析显示潮汕和闽南这两个群体具有相似的中原汉族成分且中原汉族的成分所占比例均大于60%。聚类图上中国人群的南北分界明显。结论:河南汉族人群15个STR基因座联合应用可满足河南人群法医学的个体识别及亲子鉴定的需要;Penta D、Penta E两个基因座具有高度多态性,可以作为建立中国DNA数据库的备选基因座;分析结果显示潮汕和闽南这两个群体具有一贯的遗传相似性,且占有较大的中原汉族起源成分;研究还表明中国南北人群之间存在遗传差异。
[Abstract]:Background: short tandem repeat (STR), or microsatellite DNA repeats, is a class of DNA sequences with length polymorphisms which are widely distributed and numerous in the human genome, which are formed by tandem repeats of 2 to 6 bases as core units. The number of core units and the number of repeats are different, which makes up the genetic polymorphism of STR. The study of STR polymorphism can reveal the historical process of human origin, migration and evolution from the molecular biological point of view. Chaoshan is located in the southeast corner of our country, the easternmost end of Guangdong Province, adjacent to Fujian Province, its region includes today's Shantou, Chaozhou, Jieyang three prefecture-level cities. The corresponding Chaoshan people refer to the Han people who live in this area and have their own unique dialects and habits. Historical records of modern Chaoshan people originated from the Han nationality in the ancient Central Plains. Our previous study on HLA(Human leucocyte antigen-polymorphism in Chaoshan population was aimed at verifying the hypothesis that Chaoshan population originated from the Han nationality in Central Plains from the viewpoint of molecular biology. The results of the study can not provide genetic evidence for the origin of the Han nationality in the Central Plains of Chaoshan people. Objective: to study the genetic polymorphism of Henan population at DNA level and to explore the origin of the Han nationality in Chaoshan. Methods: the genetic polymorphisms of 15 STR loci in 200 healthy people of Han nationality in Henan province were studied by fluorescence labeled PCR and capillary electrophoresis, and the genetic polymorphisms in Chaoshan, Henan, Henan province were also studied. The genetic polymorphisms of the two loci of Penta DX Penta E in three Han population of South Fujian were studied. According to the STR data of Chaoshan population and new samples (not published) and the STR data collected from other regions published in domestic and foreign publications, the genetic distance between different populations was calculated. A high resolution evolutionary tree was constructed to study the origin of Han nationality in Chaoshan and its relationship with other populations. Results: a total of 142 alleles of 451 alleles were detected in 15 STR loci in Henan Han population. The alleles and genotypes of Penta Penta E loci were 27 and 1166.28 and 11726 and 95in Chaoshan, Henan and Minnan Han populations, respectively. The observed values and expected values were tested accurately. Except for the D3S1358(P 0.04) loci in Henan population, there was no significant difference in genotypes of Hardy-Weinberg loci between other populations, which was in line with the Hardy-Weinberg balance. The cluster analysis of the STR loci of CODIS system showed that Chaoshan Han nationality was very close to the Han nationality in southern Fujian and was close to the Han nationality in Henan province. The fusion analysis showed that Chaoshan and Minnan had similar composition of Han nationality in Central Plains and the proportion of Han nationality in Central Plains was more than 60%. The north-south boundary of Chinese population is obvious on the cluster map. Conclusion: the combined use of 15 STR loci in Henan Han population can meet the needs of individual identification and paternity identification in forensic medicine of Henan province. The two loci of Penta Dendrogene are highly polymorphic and can be used as candidate loci for establishing Chinese DNA database. The results show that Chaoshan and Minnan populations have a consistent genetic similarity and occupy a large origin of the Han nationality in the Central Plains, and the study also shows that there are genetic differences between the north and south populations of China.
【学位授予单位】：汕头大学
【学位级别】：硕士
【学位授予年份】：2008
【分类号】：D919

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