本文選題：X-STR + 多態(tài)性��； 參考：《山西醫(yī)科大學(xué)》2008年碩士論文

【摘要】： 目的:調(diào)查DXS6800和DXS6804兩個(gè)X染色體STR基因座在山西漢族人群基因頻率分布、多態(tài)性及群體差異情況,為其法醫(yī)學(xué)應(yīng)用、DNA數(shù)據(jù)庫(kù)建立、群體遺傳學(xué)提供基礎(chǔ)數(shù)據(jù)。 方法:隨機(jī)抽取山西地區(qū)175名(女85,男90)無(wú)血緣關(guān)系漢族個(gè)體靜脈血500ul,采集同一例健康男性尸體的心臟、肝臟、肌肉組織等進(jìn)行同一性測(cè)定。EDTA抗凝,用TKM1液反復(fù)洗滌至無(wú)色,蛋白酶K(20mg/ml)消化至液體清亮為止,用酚一氯仿法提取DNA,PCR擴(kuò)增,8%非變性聚丙烯酞胺凝膠電泳,硝酸銀染色分型。采用直接計(jì)數(shù)法計(jì)算2個(gè)X-STR基因座的等位基因頻率和單倍型頻率�；蜃儺惗群蛦伪缎妥儺惗雀鶕�(jù)公式GD=n(1-∑Pi~2)/(n-1)計(jì)算,其中Pi為等位基因和單倍型的頻率,n為樣本數(shù)。標(biāo)準(zhǔn)誤(StandardError,SE)利用公式SE={2[∑Pi~3-(∑Pi~2)~2]/n}~(1/2)計(jì)算。單倍型的個(gè)人識(shí)別率(discriminating power,DP)、非父排除率(PE)計(jì)算公式同變異度公式。x~2檢驗(yàn)比較男女性群體等位基因頻率的差異,應(yīng)用x~2精確法對(duì)女性樣本進(jìn)行Hardy-Weinberg平衡吻合度檢驗(yàn) 結(jié)果:DXS6804基因座的核心序列為ATAG,重復(fù)次數(shù)為11—15。山西漢族群體85個(gè)女性和90個(gè)男性無(wú)關(guān)個(gè)體,DXS6804基因座共檢出5種不同的等位基因,分別為DXS6804*11(0.0865)、DXS6804*12(0.2270)、DXS6804*13(0.2378)、DXS6804*14(0.2595)、DXS6804*15(0.1892),基因多樣性為0.7024。DXS6800基因座的核心序列為GATA,重復(fù)次數(shù)為16—18,山西漢族群體85個(gè)女性和90個(gè)男性無(wú)關(guān)個(gè)體,DXS6800基因座共檢出3種不同的等位基因,分別為DXS6800*16(0.7531)、DXS6804*17(0.0396)、DXS6804*18(0.2073),基因多樣性為0.4003。與不同地區(qū)及不同民族的等位基因頻率分布進(jìn)行了比較均有明顯的差異。同一尸體血液,器官組織檢測(cè)結(jié)果分型一致。對(duì)包括人、牛、羊、狗、兔、雞、豬、鴨、魚(yú)、鼠等十種常見(jiàn)動(dòng)物個(gè)體的DNA模板進(jìn)行這2個(gè)X-STR基因座分析,發(fā)現(xiàn)只有人類(lèi)個(gè)體的DNA模板能夠擴(kuò)增出DXS6800和DXS6804基因座的特異性片斷,表明這2個(gè)基因座均有種屬特異性。18例兩代家系觀察未見(jiàn)突變,表明這2個(gè)基因座有較好的遺傳穩(wěn)定性。 結(jié)論:DXS6800和DXS6804在山西漢族人群中有較好的多態(tài)性、種屬特異性和遺傳穩(wěn)定性,其等位基因分布在不同地區(qū)、不同人群有差異性,對(duì)法醫(yī)學(xué)應(yīng)用、人類(lèi)遺傳學(xué)等研究具有重要價(jià)值。
[Abstract]:Objective: to investigate the distribution, polymorphism and population difference of DXS6800 and DXS6804 STR loci on X chromosome in Shanxi Han population, so as to provide basic data for their forensic application and population genetics.Methods: the venous blood samples of 175 unrelated Han individuals (female 85, male 90) from Shanxi area were randomly selected. The homogeneity of heart, liver and muscle tissues of the same healthy male cadaver was determined. The anticoagulants were washed to colorless with TKM1 solution repeatedly.The protease KG / ml was digested until the liquid was clear and the DNA was extracted by phenol-chloroform method to amplify 8% non-denatured polyacrylamide gel electrophoresis and type by silver nitrate staining.The allele frequency and haplotype frequency of two X-STR loci were calculated by direct counting method.The variation of gene and haplotype was calculated according to the formula GDN ~ (1-)-鈭，

本文編號(hào)：1770184