發(fā)布時間：2018-11-25 13:08

【摘要】： 目的調(diào)查2個X-STR基因座DXS9902和DXS7132在山西漢族人群中等位基因頻率分布、單倍型頻率分布及對不同群體等位基因頻率分布進(jìn)行比較,為其法醫(yī)學(xué)應(yīng)用、群體遺傳學(xué)研究提供基礎(chǔ)數(shù)據(jù),并對其在法醫(yī)學(xué)上的應(yīng)用進(jìn)行可行性探討。 方法(1)樣本采集:隨機(jī)抽取210例山西漢族無關(guān)個體(女120,男90)靜脈血500μL,EDTA抗凝,進(jìn)行2個基因座的多態(tài)性分析,采集15例三聯(lián)體家系血進(jìn)行突變觀察;采集同一例健康男性尸體的血液、肌肉、心臟、肝臟、腎臟組織等進(jìn)行同一性測定。(2)方法:酚-氯仿有機(jī)溶劑法提取基因組DNA,PCR擴(kuò)增,8%非變性聚丙烯酰胺凝膠電泳,硝酸銀染色分型。(3)數(shù)據(jù)處理:兩個基因座等位基因頻率、基因型頻率和單倍型頻率采用直接計算法,χ2檢驗進(jìn)行男女性群體等位基因頻率差異比較、女性樣本Hardy-Weinberg平衡吻合度檢驗和不同群體等位基因頻率差異比較,計算各種遺傳學(xué)參數(shù)。 結(jié)果(1)在山西漢族120名女性及90名男性無關(guān)個體中,DXS9902檢出6個等位基因9～14,基因頻率分布范圍0.0091～0.4182,DXS7132檢出5個等位基因12～16,基因頻率分布范圍0.0758～0.3515,男女性等位基因頻率分布無顯著性差異;2個基因座在女性個體分別發(fā)現(xiàn)有17、13種基因型,雜合度分別為0.6833、0.7333,女性基因型頻率分布均符合Hardy-Weinberg平衡(P0.05);2個基因座女性個人識別率分別為0.8122,0.9006,非父排除率分別為0.4847,0.5498。這2個基因座構(gòu)成的單倍型在90名男性個體中共發(fā)現(xiàn)20種,根據(jù)男性單倍型分布計算所的單倍型多樣性、個人識別率、非父排除率分別為0.9398、0.8928、0.8006。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。(2)同一尸體血液,器官組織檢測結(jié)果分型一致。(3)15例兩代家系觀察未見突變。 結(jié)論DXS9902和DXS7132基因座均具有較高的遺傳多態(tài)性,單倍型具有較好的個人識別能力和非父排除率,其等位基因分布在不同地區(qū)、不同人群有差異性,對法醫(yī)學(xué)應(yīng)用、人類遺傳學(xué)等研究具有重要價值。
[Abstract]:Objective to investigate the allele frequency distribution, haplotype frequency distribution and allele frequency distribution of two X-STR loci (DXS9902 and DXS7132) in Shanxi Han population. Population genetics provides basic data and discusses the feasibility of its application in forensic medicine. Methods (1) sampling: 210 unrelated individuals (female 120, male 90) from Shanxi Han nationality were randomly selected for 500 渭 L EDTA anticoagulant in venous blood. The polymorphism of 2 loci was analyzed, and 15 triplet blood samples were collected for mutation observation. The homogeneity of blood, muscle, heart, liver and kidney tissues of the same healthy male cadaver was determined. (2) Genomic DNA,PCR was extracted by phenol-chloroform organic solvent method. (3) data processing: allele frequency, genotype frequency and haplotype frequency of two loci were calculated directly. The allele frequency difference of male and female population was compared by 蠂 2 test. The genetic parameters were calculated by Hardy-Weinberg equilibrium coincidence test and allele frequency difference of different populations in female samples. Results (1) six alleles (914) were detected by DXS9902 in 120 female and 90 male unrelated individuals in Shanxi Han nationality, and 5 alleles were detected in the range of 0.0091nr 0.4182DXS7132. The range of gene frequency distribution was 0.0758, 0.3515, and there was no significant difference in the frequency distribution of male and female alleles. 13 genotypes were found in the two loci in female individuals, the heterozygosity was 0.6833 (0.6833) and the frequency distribution of female genotypes was in accordance with the Hardy-Weinberg equilibrium (P0.05). The rate of personal identification and non-paternal exclusion of the two loci were 0.8122 and 0.9006, respectively. The haplotypes of the two loci were found in 90 male individuals. The haplotype diversity, personal identification rate and non-paternal exclusion rate were 0.93980.89280.8006, respectively. The frequency distribution of alleles was significantly different from that of different regions and nationalities. (2) the results of blood and organ tissue examination of the same cadaver were consistent. (3) there was no mutation observed in 15 cases of two generations of pedigree. Conclusion both DXS9902 and DXS7132 loci have higher genetic polymorphisms, haplotypes have better personal recognition ability and non-paternal exclusion rate, and their alleles are distributed in different regions and different populations, so they can be used in forensic medicine. The study of human genetics is of great value.
【學(xué)位授予單位】：山西醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2008
【分類號】：D919

【引證文獻(xiàn)】

相關(guān)碩士學(xué)位論文 前1條

1 李虹;重慶漢族人群X染色體4個STR基因座遺傳多態(tài)性的研究[D];重慶醫(yī)科大學(xué);2010年

，

本文編號：2356212