【作者】 徐锐；

【导师】 徐林；

【作者基本信息】 广西医科大学 ， 人体解剖学， 2007， 硕士

【摘要】 目的:了解湖北土家族15个STR基因座（TH01、CSF1PO、HUMTPOX、FGA、vWA、D2S1338、D3S1358、D5S818、D7S820、D8S1179、D13S317、D16S539、D18S51、D19S433、D21S11）的遗传多态性,探讨该民族与国内18个民族群体的遗传关系。材料与方法:湖北土家族无关个体血样110例,用Chelex-100方法提取DNA,应用AmpFl STR^?Identifiler^Tmkit荧光标记复合PCR扩增技术对样本DNA15个STR基因座进行扩增,在ABI Prism 3100型DNA序列分析仪对扩增产物进行检测,GeneScan Analysis3.7和Genotyper3.7分析软件对检测结果进行扫描分析。用人工方法（Excel软件）计算各个基因座的遗传多态性参数;另外选择与本研究9个STR基因座完全相同的18个国内民族群体进行群体遗传学研究,根据他们的等位基因频率算出遗传距离后,利用MEGA3.1软件的Neigllbour-Joining方法构建系统发生树。结果:①遗传多态性参数:湖北土家族15个STR基因座中共检测出132种等位基因,等位基因频率分布在0.0045-0.5182之间;374种基因型,频率分布在0.0091～0.3182之间;杂合度（H_o）分布在0.6364～0.9091,平均杂合度为0.7873、多态信息含量（PIC）分布在0.5549～0.8552、个体识别力（DP）分布在0.7954～0.9595、累积个体识别力（TDP）大于0.99999999998,非父排除率（EP）分布在0.3658～0.8510,累积非父排除率（CEP）大于0.999999992。②群体遗传学研究:湖北土家族与地理位置位于其周边的汉族群体间的遗传距离普遍小于其与其他少数民族群体间的遗传距离,与维吾尔族的遗传距离最大。湖北土家族与其他18个民族群体的系统发生树结果显示湖北土家族首先和广西苗族、广西瑶族相聚,其次同四川汉族、江西汉族、浙江汉族、湖南汉族、河南汉族相聚,再次与安徽汉族、甘肃汉族、甘肃东乡族、陕西汉族、江苏汉族相聚,然后和拉萨藏族及云南彝族、云南纳西族相聚,最后与蒙古族、朝鲜族、维吾尔族相聚。结论:湖北土家族的15个STR基因座除TPOX基因座外,其他14个基因座都属于高度多态性遗传标记。湖北土家族群体可能是以土家族的遗传标记为主的融合有其他民族遗传特征的群体。更多还原

【Abstract】 Objective:To investigate the polymorphisms of 15 short tandem repeat（STR） loci（TH01、CSFIPO、HUMTPOX、FGA、vWA、D2S1338、D3S1358、D5S818、D7S820、D8S1179、D13S317、D16S539、D18S51、D19S433、D21S11）in Tujia ethnic group of Hubei province.So as to reveal the genetic relationship among Tujia ethnic group and 18 domestic ethnic groups.Material and Methods:Sodium-citrated blood specimens from 110 unrelated Tujia individuals were collected,The DNA were extracted from the specimens by method of Chelex-100 extraction.The 15 STR loci were amplified by using the AmpFISTR Identifiler ^TmPCR Amplification Kit and screened by ABI Prism 3100 Genetic Analyzer,and the solution were analyzed by software GeneScan Analysis3.7 and Genotyper3.7.The genetic parameters of each locus were calculated based on Microsoft office excel statistical software.According to genetic frequency of selected 9 STR loci,we finally computed genetic distances among Tujia ethnic group and 18 domestic ethnic groups.The phylogenetic analyses were made by Neighbour-Joining method of MEGA 3.1 software.Results:①genetic polymorphism parameter:132 alleles and 374 genotypes were observed in the 15 STR loci.The allele frequency and genotype frequency were ranged from 0.0045-0.5182 and 0.0091～0.3182,respectively.The heterozygosities（Ho）of 15 STR loci were between 0.6364 and 0.9091 with average heterozygosity being 0.7873.The polymorphism information contents（PIC）were from 0.5549 to 0.8552.The discrimination powers （DP）were from 0.7954 to 0.9595,with the together discrimination power（TDP）being exceeding 0.99999999998,and the exclusion probabilities of paternity exclusion（EP）were ranged from 0.3658 to 0.8510,with the cumulative exclusion power（CEP）exceeding 0.999999992.②study on population genetics:The genetic distance among Tujia ethnic group and Han ethnic groups which closed to it were smaller than that among Tujia and the other minor ethnic groups,and the most distance relationship existed between Tujia ethnic group and Mongolian.The analysis of phylogenetic tree represent that firstly Tujia ethnic group of Hubei province congregated with Miao ethnic group and Yao ethnic group of Guangxi province,secondly congregated with Han ethnic groups of Sichuan,Jiangxi,Zhejiang,Hunan, Henan,thirdly Anhui,Gansu,Shanxi,Jiangsu then congregated with Tibetan of Lasa,Yi and Naxi ethnic group of Yunnan,finally with Mongolian,Korean and Uygur.Conclusions:15 STR loci（except TPOX）of Tujia ethnic group of Hubei province are high polymorphism genetic markers.Tujia ethnic group may be a species that is mainly full of its own genetic markers and mixed with genetic characteristics of other ethnic groups.更多还原