【作者】 于恩艳；

【导师】 马合木提·哈力克；

【作者基本信息】 新疆大学 ， 动物学， 2008， 硕士

【摘要】 我国地处东亚的中心位置,民族群体众多。对我国民族群体遗传多样性的研究,有助于对其遗传结构的了解,也有助于增进对各民族群体的渊源关系的认识。新疆维吾尔自治区地处我国西北边睡,有着特殊的地理环境和历史背景,生活着维吾尔族、哈萨克族、柯尔克孜族、乌孜别克和锡伯族等十三个民族,其中维吾尔族、哈萨克族、柯尔克孜族、乌孜别克族4个少数民族为新疆特有的少数民族。该地区各少数民族群体之相对隔离,民族起源众说不一,有关民族特有的等位基因、基因型及基因频率研究资料缺乏,对研究中华民族起源、法医学个体识别、民族特有疾病谱等带来许多不利的影响。因此,研究该地区少数民族遗传结构及变化规律是一项十分紧迫的任务。本文研究新疆地区塔吉克族、柯尔克孜族线粒体DNA非编码区(D-loop)多态性和V区多态性,用以分析两个民族的起源关系以及两个民族同我国其他少数民族、亚洲其他国家和世界其他大洲人群之间的血缘关系。本实验对新疆地区塔吉克族和柯尔克孜两个群体(其中塔吉克族34名,柯尔克孜族30名) mtDNA非编码区(D-loop)的高变区nt15996-16401的400bp片段进行PCR扩增和测序分析,将所得序列与剑桥国际标准序列进行比较,分析基因型。根据基因型我们计算了群体间核酸多态度( dxy )、群体内核酸多态度(dx或dy)以及净遗传距离(dA ),用Neighbor-Joining法构建系统进化树,用以分析各个民族和人群间的遗传和起源关系。此外,我们还观察了两个民族中的COII/tRNAlys9-bp的缺失情况,并将这一结果同国内外的其他民族相比较。研究结果显示34个塔吉克族个体核苷酸序列与Anderson相应序列比较共发现有50处突变位点,构成22种单倍型塔吉克族线粒体DNA D环高变一区基因差异度为0.9822,偶合概率为0.0466,30个柯尔克孜族个体核苷酸序列与Anderson相应序列比较共发现有39处突变位点,构成26种单倍型塔吉克族线粒体DNA D环高变一区基因差异度为0.9910,偶合概率为0.0327。用MEGA3.0软件根据Neighbor-Joining法构建群体系统发育树,单倍型数据计算各群体间的遗传距离,进化树显示塔吉克族与约旦高加索人的亲缘关系较近,柯尔克孜族与内蒙古的鄂温克族亲缘较近。研究还发现,在塔吉克族及柯尔克孜族样本中只发现标准型和缺失型两种多态性,70例柯尔克孜族人群中有2例(2.86%) mtDNA 9 bp缺失;70例塔吉克族人群中有1例(1.43%)mtDNA 9-bp缺失。研究结果表明,塔吉克族和约旦高加索人之间可能存在着相同或者相近的祖先,遗传关系较近。中国新疆塔吉克族和柯尔克孜族人群中存在很少的mtDNA 9 bp缺失多态性,与其他民族或人种有一定差异。3个阿尔泰语系群体和1个印欧语系群体的遗传关系具有相似的单倍型分布,这与语言学、历史学、考古学等方面的资料能够相互印证的。更多还原

【Abstract】 China Located at the central Asia ,there settled many ethnic groups. Research on genetic structure is not only contributing to our understanding of the genetic polymorphism of the Chinese ethnic groups, but also help us to understand the relationship among these ethnic groups.The Chinese of Xinjiang Uygur Autonomy Region are considered to be a laboratory resource for population genetics research. There are Uygur, Sibe, Ozbek, Kirgiz and Kazak and so on, about thirteen ethnic groups living in Xinjiang region and Uygur ,Ozbek, Kirgiz and Kazak are the unique ethnic groups in China .These 5 ethnic groups are isolated relatively and the origins of these groups are unclear .The genetic data of special gene in these groups, genotype and gene frequencies are very poor. As result, it is a great disadvantage to research Chinese population origins, gene diversity, forensic Human identification and special disease of these populations. Therefore it is very necessary to study the genetic structure and genetic variety of the minorities.To analyze the genetic polymorphisms of the mitochondrial DNA(mtDNA) in the ethnic groups of Tajik and Kirgiz people living in Xinjiang. the result was used to compare the relation with Chinese minority and other populations in Asia and in the world. By analyzing the sequence of the major noncoding (D-loop) region of human mtDNA from Tajik and Kirgiz nationality in Xinjiang, the population was made up of (include 34 Tajik and 30 Kirgiz nationality persons). The sequence was observed from nt15996 to nt16401 and by the PCR enlargement and sequence analyzing, and the whole sequence length was 400bp. The result was compared with the Cambridge Reference Sequence in order to analyze the genotypes. We also calculated the interpopulational (dxy), intrapopulational (dx or dy) and net nucleotide diversity (dA) between two populations in Xinjiang according to genotypes, the Neighbor-Joining phylogenetic tree was built to analyze the relationship of genetic and origin among the different nationalities and populations. Furthermore, the intergenic COII/tRNAlys9-bp deletion was observed in very population of two nationalities with varying frequencies, and the result was compared with others.50 polymorphic sites and 22 haplotypes were identified in the nucleotides for HV-I in 34 Tajik populations, comparing with the reference sequence .The genetic diversity was calculated to be 0.9822, and the genetic identity was 0.0466. 39 polymorphic sites and 26 haplotypes were identified in the nucleotides for HV-I in 30 Kirgiz populations, comparing with the reference sequence .The genetic diversity was calculated to be 0.9910, and the genetic identity was 0.0327 .Data analysis was following the software dnaSP: The Fst that based on the haplotype data was calculated and built a polygene tree by software Mega 3.0.we found the closer relation between Tajik in Xinjiang China and Caucasoid,Kirgiz in Xinjiang and Ewenki from Inner Mongolia. The frequency of 9 bp deletion in mtDNA of the ethnic groups in Tajik is 1.43%and in Kirgiz is 2.86%.Research shows that it may have the same origins between Caucasoid and the Tajik in China, The frequencies of 9 bp deletion in mtDNA in those two ethnic groups in Xinjiang are relatively low,but they are different from those in other people. 3 ethnic groups belongs to the Altai Language family is closer to the Indio-European Language family in patrilineal lineage genetic structure .These 4 ethnic groups carried a similar haplotype distribution. It was proved by linguistic, history and archeology.更多还原