本文選題：群體遺傳學(xué) + 短串聯(lián)重復(fù)序列　； 參考：《汕頭大學(xué)》2008年碩士論文

【摘要】：背景:短串聯(lián)重復(fù)序列(short tandem repeat,STR)或稱微衛(wèi)星DNA重復(fù)序列(microsatellite),是一類廣泛存在于人類基因組中由2～6個(gè)堿基作為核心單位串聯(lián)重復(fù)形成的具有長度多態(tài)性的DNA序列。STR分布廣,數(shù)目多,其核心單位的數(shù)目變化和重復(fù)次數(shù)不同,構(gòu)成了STR的遺傳多態(tài)性。研究STR多態(tài)性,可以從分子生物學(xué)角度揭示人類的起源、遷移、進(jìn)化等歷史進(jìn)程。潮汕僻處我國的東南隅,廣東省的最東端,與福建省毗鄰,其地域包括今天的汕頭、潮州、揭陽三個(gè)地級市。對應(yīng)的潮汕人指居住于該區(qū)域并有自己獨(dú)特方言和生活習(xí)慣的漢族民系。史料記載現(xiàn)代潮汕人源自古中原漢族。我們前期的關(guān)于潮汕人群的HLA(Human leucocyte antigen)遺傳多態(tài)性研究,旨在從分子生物學(xué)角度驗(yàn)證潮汕人群起源于中原漢族的假設(shè),研究結(jié)果尚不能為潮汕人的中原漢族起源提供遺傳學(xué)上肯定的證據(jù)。 目的:在DNA水平上研究河南人群的遺傳多態(tài)性,深入探究潮汕人的中原漢族起源。方法:采用熒光標(biāo)記PCR和毛細(xì)管電泳相結(jié)合的技術(shù)對河南漢族200例健康人群的15個(gè)STR基因座遺傳多態(tài)性進(jìn)行研究,以及對潮汕、河南、閩南三個(gè)漢族人群Penta D、Penta E兩基因座的遺傳多態(tài)性進(jìn)行研究,結(jié)合本課題組已發(fā)表潮汕人群STR數(shù)據(jù)并新增樣本(數(shù)據(jù)未發(fā)表)以及搜集到的發(fā)表在國內(nèi)外刊物的其它地區(qū)人群STR數(shù)據(jù),Phylip軟件計(jì)算不同人群間的遺傳距離,構(gòu)建高分辨率進(jìn)化樹,探討潮汕人群的中原漢族起源及與其它人群之間的關(guān)系。 結(jié)果:河南漢族人群15個(gè)STR基因座共檢出142個(gè)等位基因451種基因型,潮汕、河南、閩南三個(gè)漢族人群Penta D、Penta E兩基因座檢出的等位基因和基因型個(gè)數(shù)分別為27和116、28和117、26和95。其觀察值與期望值經(jīng)精確檢驗(yàn),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無顯著性差異(p 0.05),符合Hardy-Weinberg平衡。選取CODIS系統(tǒng)STR基因座的人群數(shù)據(jù)聚類分析結(jié)果顯示潮汕漢族離閩南漢族很近,距河南漢族較近;融合分析顯示潮汕和閩南這兩個(gè)群體具有相似的中原漢族成分且中原漢族的成分所占比例均大于60%。聚類圖上中國人群的南北分界明顯。 結(jié)論:河南漢族人群15個(gè)STR基因座聯(lián)合應(yīng)用可滿足河南人群法醫(yī)學(xué)的個(gè)體識(shí)別及親子鑒定的需要;Penta D、Penta E兩個(gè)基因座具有高度多態(tài)性,可以作為建立中國DNA數(shù)據(jù)庫的備選基因座;分析結(jié)果顯示潮汕和閩南這兩個(gè)群體具有一貫的遺傳相似性,且占有較大的中原漢族起源成分;研究還表明中國南北人群之間存在遺傳差異。
[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.
【學(xué)位授予單位】：汕頭大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2008
【分類號(hào)】：D919

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