潮汕人群mtDNA遗传多态性及与其他人群亲缘关系的比较研究

发布时间：2018-05-25 14:40

  本文选题：线粒体DNA + 多态性　； 参考：《汕头大学》2009年硕士论文

【摘要】：背景:线粒体DNA(mitochondrial DNA,mtDNA)具有母系遗传、缺乏重组、突变率高等遗传特性,因此容易形成人群特异的遗传标记,是研究人类系统进化、人群迁移历史的一个很有用的遗传标记。由于线粒体DNA遵从严格的母系遗传方式,避免了混血影响,因而通过对线粒体差异的分析可以忠实再现人群的母系进化史。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。据历史记载,公元前214年之前,潮汕地区的主要先民是闽越族,秦汉之后,随着中原汉族后裔南迁并与当地原住民融合,潮汕人遂被逐渐同化为汉族。课题组前期曾采用HLA(Human leucocyte antigen)以及常染色体STR(Short tandem repeat)遗传标记在基因水平上对潮汕人群的人类学起源进行过研究。两种遗传标记的研究结果都显示潮汕汉族与南方汉族聚类并与闽南汉族亲缘关系最近,而与北方汉族的亲缘关系较远。STR研究的结果还显示在潮汕人群基因库中中原汉族的成分占主体,而南方原住民的成分较少。 目的:从母系遗传的角度研究潮汕人群与中国其他人群之间的亲缘关系,进一步探讨潮汕人群母系基因库的遗传成分。 方法:对潮汕汉族人群120例无关个体进行高变区(hypervariable segment 1 and hypervariable segment 2,HVS-1 and HVS-2)序列分析和COⅡ/tRNALys区段的9bp缺失检测,计算各种单倍群的频率。进一步收集其他人群的线粒体DNA第一高变区序列和单倍群频率数据用于人群比较。用聚类分析、主成分分析研究人群之间的亲缘关系;用融合分析计算北方汉族和南方原住民人群对潮汕人群母系基因库的贡献率大小。 结果:潮汕人群的单倍型多样度(h)在1区和2区分别为0.992和0.942,核苷酸多样度(π)在1区和2区分别为0.02153和0.01049,9bp缺失频率为18.33%。在潮汕人群中,南方原住民的主要单倍群比北方汉族的主要单倍群所占的比例稍高一些。聚类分析和主成分分析的结果都显示潮汕人群与其他南方汉族人群聚类。在潮汕人群的母系基因库中南方原住民和北方汉族的成分基本上各占一半。此外,聚类分析和主成分分析的结果都显示中国人群南北分界明显。 结论:线粒体DNA高变区在潮汕汉族人群中具有高度多态性;潮汕人群具有南方汉族人群的遗传特征;潮汕人群的母系遗传成分源于北方汉族和南方原住民;中国南北人群之间存在遗传差异。
[Abstract]:Background: mitochondrial DNA(mitochondrial DNA (mtDNA) has the characteristics of maternal inheritance, lack of recombination and high mutation rate. Therefore, it is easy to form population-specific genetic markers, which is a useful genetic marker to study the history of human phylogeny and population migration. Because mitochondrial DNA obeys strict patrilineal inheritance and avoids the influence of hybrids, it can faithfully reproduce the maternal evolution history of people by analyzing mitochondrial differences. 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. According to historical records, before 214 BC, the main ancestor of Chaoshan area was the Min-Yue nationality. After the Qin and Han dynasties, the Chaoshan people were gradually assimilated into the Han nationality as the descendants of the Han nationality moved southward and merged with the native people of the Central Plains. HLA(Human leucocyte antigenand autosomal STR(Short tandem repeat) markers were used to study the anthropological origin of Chaoshan population at the gene level. The results of the two genetic markers showed that Chaoshan Han and Southern Han were clustered and closely related to the Han nationality in South Fujian. The results of STR study also showed that the components of Han nationality in Chaoshan population were dominant, while those of southern aborigines were less. Objective: to study the genetic relationship between Chaoshan population and other Chinese people from the point of view of maternal inheritance, and to further explore the genetic components of maternal gene pool in Chaoshan population. Methods: the hypervariable segment 1 and hypervariable segment 2 HVS-1 and HVS-2 sequence analysis and 9bp deletion detection of CO 鈪，

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