山西汉族X-STR基因座DXS9902、DXS7132遗传多态性及法医学应用
发布时间：2018-11-25 13:08
【摘要】： 目的调查2个X-STR基因座DXS9902和DXS7132在山西汉族人群中等位基因频率分布、单倍型频率分布及对不同群体等位基因频率分布进行比较,为其法医学应用、群体遗传学研究提供基础数据,并对其在法医学上的应用进行可行性探讨。 方法(1)样本采集:随机抽取210例山西汉族无关个体(女120,男90)静脉血500μL,EDTA抗凝,进行2个基因座的多态性分析,采集15例三联体家系血进行突变观察;采集同一例健康男性尸体的血液、肌肉、心脏、肝脏、肾脏组织等进行同一性测定。(2)方法:酚-氯仿有机溶剂法提取基因组DNA,PCR扩增,8%非变性聚丙烯酰胺凝胶电泳,硝酸银染色分型。(3)数据处理:两个基因座等位基因频率、基因型频率和单倍型频率采用直接计算法,χ2检验进行男女性群体等位基因频率差异比较、女性样本Hardy-Weinberg平衡吻合度检验和不同群体等位基因频率差异比较,计算各种遗传学参数。 结果(1)在山西汉族120名女性及90名男性无关个体中,DXS9902检出6个等位基因9～14,基因频率分布范围0.0091～0.4182,DXS7132检出5个等位基因12～16,基因频率分布范围0.0758～0.3515,男女性等位基因频率分布无显著性差异;2个基因座在女性个体分别发现有17、13种基因型,杂合度分别为0.6833、0.7333,女性基因型频率分布均符合Hardy-Weinberg平衡(P0.05);2个基因座女性个人识别率分别为0.8122,0.9006,非父排除率分别为0.4847,0.5498。这2个基因座构成的单倍型在90名男性个体中共发现20种,根据男性单倍型分布计算所的单倍型多样性、个人识别率、非父排除率分别为0.9398、0.8928、0.8006。与不同地区及不同民族的等位基因频率分布进行了比较均有明显的差异。(2)同一尸体血液,器官组织检测结果分型一致。(3)15例两代家系观察未见突变。 结论DXS9902和DXS7132基因座均具有较高的遗传多态性,单倍型具有较好的个人识别能力和非父排除率,其等位基因分布在不同地区、不同人群有差异性,对法医学应用、人类遗传学等研究具有重要价值。
[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.
【学位授予单位】：山西医科大学
【学位级别】：硕士
【学位授予年份】：2008
【分类号】：D919
本文编号：2356211
[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.
【学位授予单位】：山西医科大学
【学位级别】：硕士
【学位授予年份】：2008
【分类号】：D919
【引证文献】
相关硕士学位论文 前1条
1 李虹;重庆汉族人群X染色体4个STR基因座遗传多态性的研究[D];重庆医科大学;2010年
，本文编号：2356211
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