發(fā)布時(shí)間：2018-04-04 16:30

  本文選題：Y染色體STR　切入點(diǎn)：遺傳多態(tài)性　出處：《遼寧醫(yī)學(xué)院》2011年碩士論文

【摘要】：目的 1、完善山東地區(qū)漢族人群17個(gè)Y染色體STR多態(tài)性基礎(chǔ)數(shù)據(jù),評(píng)價(jià)Y-STR基因座個(gè)體識(shí)別能力,為計(jì)算親權(quán)概率和個(gè)人識(shí)別率提供數(shù)據(jù)支持。 2、以山東膠東、魯中、魯北、魯南、魯西地區(qū)漢族人群為研究對(duì)象,比較不同亞群間17個(gè)Y染色體STR的多態(tài)性差異,探討山東省不同地區(qū)人群間是否存在明顯的亞群結(jié)構(gòu)及不同地區(qū)之間人群遷移、融合問題。 3、完善山東地區(qū)張、王、李、趙、劉、陳、孔、孟、O@、么十家姓氏17個(gè)Y染色體STR多態(tài)性基礎(chǔ)數(shù)據(jù),分析十家姓氏譜系淵源關(guān)系,嘗試探討O@姓、么姓姓氏的起源問題及不同姓氏人群間人群遷徙、基因融合及親緣關(guān)系情況,記錄、保護(hù)我國(guó)姓氏傳統(tǒng)文化,進(jìn)而輔助考古學(xué)相關(guān)研究。 方法 1、在知情同意下,隨機(jī)選取山東省膠東、魯中、魯北、魯南、魯西五個(gè)地區(qū)為調(diào)查點(diǎn),獲得909例受檢者干血血樣樣本;采集山東省內(nèi)張、王、李、趙、劉、陳、孔、孟、O@、么不同姓氏人員樣本1086例。 2、采用《GA/T 383-2005》中Chelex-100法提取干血DNA,使用AmpFLSTR Y-filerTM復(fù)合擴(kuò)增試劑盒擴(kuò)增17個(gè)熒光標(biāo)記的基因座, ABI 3130XL Genetic Analyzer遺傳分析儀毛細(xì)管電泳,ABI GeneMapper ID software V3.2軟件分析遺傳分析儀電泳數(shù)據(jù),操作過(guò)程符合法庭科學(xué)DNA操作規(guī)范。 3、使用PowerMarker V 3.25軟件計(jì)算山東總體人群基因多樣性、單倍型多樣性及多態(tài)性信息含量等法醫(yī)物證學(xué)參數(shù),對(duì)山東省膠東、魯西、魯中、魯南、魯北五個(gè)地區(qū)人群間等位基因頻率分布差異的情況予以Chi-square test分析, Hardy-weinberg平衡檢驗(yàn)評(píng)價(jià)Hardy-weinberg平衡情況,利用PowerMarker V3.25軟件Classic F-Statistics選項(xiàng)對(duì)山東五個(gè)個(gè)地區(qū)的樣本進(jìn)行分子方差分析(AMOVA),評(píng)價(jià)變異主要來(lái)源。對(duì)于姓氏譜系淵源關(guān)系研究首先使用PowerMarker軟件計(jì)算不同姓氏人群17個(gè)Y-STR基因座的等位基因頻率,Chi-square test分析評(píng)價(jià)O@姓、么姓人群與山東省漢族人群等位基因頻率分布的差異,使用PowerMarker V3.25軟件對(duì)十家姓氏人群遺傳距離分析,分析方法為Shared Allele法,并根據(jù)遺傳距離分析建立十家姓氏人群NJ系統(tǒng)發(fā)生樹。 結(jié)果 1、909例受檢樣本各基因座都得到了有效的擴(kuò)增, 17個(gè)Y染色體STR基因座的遺傳多態(tài)性研究顯示,17個(gè)Y-STR除DYS391(GD=0.4861)在魯西地區(qū)人群中識(shí)別能力較低,其余基因座的GD值都大于0.50,表明17個(gè)Y-STR系統(tǒng)在山東地區(qū)漢族中具有豐富的遺傳多樣性和較高的個(gè)人識(shí)別能力。在909例不同的個(gè)體中,17個(gè)基因座單倍型頻率為0.9997,適合用于法醫(yī)學(xué)實(shí)際檢案中的父權(quán)鑒定和個(gè)體識(shí)別。 2、山東地區(qū)漢族人群與其他地區(qū)人群、民族等位基因頻率比較,與西藏地區(qū)藏族、廣西黑衣壯族、南通地區(qū)漢族顯著差異較明顯。與秘魯、波蘭、塞爾維亞、馬來(lái)西亞印度人比較等位基因頻率分布上差異更加明顯。以山東省膠東、魯西、魯中、魯南、魯北五個(gè)地區(qū)劃分山東省人群群體亞群結(jié)構(gòu)各地區(qū)等位基因頻率總體上差異不明顯,只有部分位點(diǎn)在不同地區(qū)間存在明顯差異(P值㩳0.05)。Hardy-weinberg平衡檢驗(yàn)發(fā)現(xiàn)總體上符合哈德-溫伯格平衡,無(wú)明顯證據(jù)顯示這些地區(qū)存在大規(guī)模人口遷移。分子方差分析(AMOVA)顯示變異差異的產(chǎn)生生與各個(gè)群體關(guān)系甚小,主要是由群體內(nèi)部造成的。 3、山東地區(qū)張、王、李、趙、劉、陳、孔、孟、O@、么十家姓氏人群17個(gè)Y-STR基因座的等位基因頻率分布與山東人群分布總體上相似。O@姓人群、么姓人群與山東省漢族人群等位基因頻率分布差異Chi-square test分析顯示,O@姓群體比較所得15個(gè)P值有3個(gè)存在顯著性差異(P值㩳0.05),顯著差異占20%。幺姓群體中比較所得15個(gè)P值有2個(gè)存在顯著性差異(P值㩳0.05),顯著差異占13.33%。山東省十家姓氏人群遺傳距離及NJ系統(tǒng)發(fā)生樹分析顯示,O@姓人群與趙姓人群遺傳關(guān)系較近,且同屬于單獨(dú)一支,這說(shuō)明O@姓人群與趙姓人群之間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與趙姓人群存在很大的淵源關(guān)系。么姓人群與王姓人群、劉姓人群遺傳關(guān)系較近,其遺傳學(xué)意義如O@姓人群。從NJ系統(tǒng)發(fā)生樹來(lái)看,山東省張、王、李、趙、劉、陳、孔、孟、O@、么十家姓氏遺傳關(guān)系主要分為三支,O@姓、趙姓人群遺傳關(guān)系較近，為第一支。李姓、孟姓人群遺傳關(guān)系較近,為第二支。其余張姓、王姓、劉姓、陳姓、孔姓、么姓人群遺傳關(guān)系較近,為第三支。本研究利用NJ系統(tǒng)發(fā)生樹客觀的反映了張、王、李、趙、劉、陳、孔、孟、O@、么十家姓氏遺傳淵源關(guān)系。 結(jié)論 1、本研究實(shí)驗(yàn)證明,山東地區(qū)漢族群體17個(gè)Y-STR基因座除DYS391外,其他具有豐富的遺傳多態(tài)性、個(gè)體識(shí)別能力,17個(gè)基因座組成的單倍型頻率一定程度上能夠滿足我國(guó)法醫(yī)辦案的實(shí)際需要。經(jīng)本研究及其他文獻(xiàn)報(bào)道,DYS391在山東省內(nèi)及我國(guó)其他地區(qū)人群中GD值偏低,不適合我國(guó)法醫(yī)學(xué)實(shí)際應(yīng)用。 2、該研究統(tǒng)計(jì)分析了山東省膠東、魯中、魯南、魯北、魯西地區(qū)漢族人群17個(gè)Y-STR基因型基因頻率,為進(jìn)一步計(jì)算人識(shí)別率和排除率提供數(shù)據(jù)支持,奠定Y-STR基因座多態(tài)性在法醫(yī)物證學(xué)應(yīng)用的基礎(chǔ),同時(shí)為其他學(xué)者研究群體遺傳問題提供數(shù)據(jù)參考。 3、山東地區(qū)人群與地區(qū)、民族人群等位基因頻率分布比較發(fā)現(xiàn),部分基因座上等位基因頻率分布具有有顯著性差異,說(shuō)明這些群體的遺傳背景具有相對(duì)的獨(dú)立性和特殊性,在應(yīng)用Y-STR進(jìn)行個(gè)體識(shí)別和親權(quán)鑒定時(shí),必須使用相應(yīng)的群體資料。 4、山東省膠東、魯中、魯南、魯北、魯西地區(qū)人群符合Hardy-Weinberg平衡,通過(guò)亞群結(jié)構(gòu)分析得出,山東省五個(gè)行政區(qū)域人群基本上沒有形成亞群結(jié)構(gòu),無(wú)明顯證據(jù)顯示五個(gè)地區(qū)間存在大規(guī)模人口遷移,五個(gè)個(gè)地區(qū)的群體基本可共享DNA數(shù)據(jù)庫(kù)。 5、姓氏淵源關(guān)系研究表明,十家姓氏群體Y染色體等位基因頻率分布呈現(xiàn)出一定的多態(tài)性,等位基因頻率分布總體趨勢(shì)上與山東漢族人群頻率分布趨勢(shì)沒有明顯的區(qū)別,不同姓氏群體間基因集合存在融合現(xiàn)象。 6、本研究利用NJ系統(tǒng)發(fā)生樹客觀的反映了張、王、李、趙、劉、陳、孔、孟、O@、么十家姓氏遺傳淵源關(guān)系，，在稀有姓氏人群數(shù)量日益減少的背景下，真實(shí)的記錄、保存了稀有姓氏群體遺傳學(xué)參數(shù)。通過(guò)對(duì)不同姓氏遺傳關(guān)系的研究得出,O@姓人群與趙姓人群遺傳關(guān)系較近，么姓人群與王姓人群、劉姓人群遺傳關(guān)系較近,其意義有待考古學(xué)、歷史學(xué)進(jìn)一步考證。本實(shí)驗(yàn)證明可以通過(guò)姓氏與Y染色體多態(tài)性的研究勾畫出姓氏間相互交叉的遺傳關(guān)系,尋找共同的生物學(xué)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.

【學(xué)位授予單位】：遼寧醫(yī)學(xué)院
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2011
【分類號(hào)】：R394

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