DXYS267位点的遗传多态性及伴性遗传单核苷酸变异的应用

发布时间：2018-03-04 06:15

本文选题：DXYS基因座　切入点：单核苷酸变异　出处：《中华医学遗传学杂志》2005年05期 　论文类型：期刊论文

【摘要】：目的调查DXYS267基因座遗传多态性,研究该座位伴性遗传单核苷酸的特征及其法医学应用价值。方法应用聚合酶链反应和聚丙烯酰胺凝胶电泳对DXYS267进行群体调查,并作Hardy-Wein-berg平衡检验,计算法医学群体遗传学参数。依据该基因座伴性遗传的单核苷酸变异,设计新的引物,选择性扩增Y染色体的DXYS267短串联重复序列。结果在118名中国汉族无关个体中,共发现6个等位基因,基因型频率分布符合Hardy-Weinberg平衡,基因座杂合度为0.6706,个体识别率为0.8433,非父排除率为0.5957。新引物可选择性扩增Y-短串联重复(short tandemrepeat,STR)序列,在184名男性无关个体共发现4个等位基因,单倍型多样性值为0.6372。结论DXYS267属一类X、Y染色体序列同源的STR序列位点,是一个高度多态性的系统。同时利用该位点的伴性单核苷酸变异,选择性扩增Y染色体上的STR序列,用于亲权鉴定和个人识别,尤其是混合斑男性检材的分型和性别鉴定有实用价值。
[Abstract]:Objective to investigate the genetic polymorphism of DXYS267 locus, to study the characteristics of the locus associated genetic single nucleotide and its forensic application value. Methods Polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis (page) were used to investigate the population of DXYS267 and Hardy-Wein-berg equilibrium test was performed. The population genetic parameters of forensic medicine were calculated. According to the single nucleotide variation of locus ligand inheritance, a new primer was designed to selectively amplify the DXYS267 short tandem repeat sequence of Y chromosome. A total of 6 alleles were found, the genotype frequency distribution was consistent with Hardy-Weinberg equilibrium, the heterozygosity of locus was 0.6706, the individual recognition rate was 0.8433, and the non-paternal exclusion rate was 0.5957.The new primers could selectively amplify the Y- short tandem repeat short and repeat STRs. Four alleles were found in 184 male unrelated individuals. The haplotype diversity was 0.6372.Conclusion the STR loci of DXYS267 belong to a class of XY chromosomes homologous to each other. It is a highly polymorphic system. At the same time, the STR sequence on Y chromosome is selectively amplified by using the locus' associated single nucleotide variation for paternity identification and personal identification. In particular, the classification and sex identification of male samples with mixed spots are of practical value.
【作者单位】：浙江省温州医学院法医学教研室华中科技大学同济医学院法医系北京市法庭技术鉴定研究所武汉同济医院眼科教研室华中科技大学同济医学院法医系
【分类号】：D919.1;

【共引文献】