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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。
Objective To investigate the genetic polymorphism of DXYS267 locus and to study the characteristics of this gene and its forensic value. Methods Polymerase chain reaction and polyacrylamide gel electrophoresis were used to investigate the population of DXYS267. Hardy-Weinberg equilibrium test was used to calculate the genetic parameters of forensic population. Based on the single nucleotide polymorphism of this locus, a new primer was designed to selectively amplify the Y chromosome DXYS267 short tandem repeats. Results A total of 6 alleles were found in 118 Han unrelated individuals in China. The frequency distribution of genotypes conformed to Hardy-Weinberg equilibrium with a locus heterozygosity of 0.6706, an individual recognition rate of 0.8433, and a non-father exclusion rate of 0.5957. The new primer could selectively amplify the short tandem repeat (STR) sequence. Four alleles were found in 184 male unrelated individuals, and the haplotype diversity value was 0.6372. Conclusion DXYS267 is a STR sequence with homologous sequences of X and Y chromosomes. It is a highly polymorphic system. At the same time, the site-specific single nucleotide variation was used to selectively amplify the STR sequence on the Y chromosome for paternity testing and personal identification, especially for genotyping and gender identification of mixed-sex male samples .