温州汉族人群短串联重复序列D1S549位点多态性研究

Research on polymorphism of STR locus D1S549 in Wenzhou Han Population

目的 :获得D1S5 4 9基因座在中国温州汉族群体中基因型及等位基因频率数据 ,探讨其在法医学中的应用价值。方法 :应用聚合酶链式反应 (Polymerasechainreaction ,PCR)、聚丙烯酰胺凝胶电泳及银染显带技术对温州地区汉族人 2 30名无关个体的D1S5 4 9位点进行分型 ,并检验D1S5 4 9基因型频率分布是否符合Hardy Weinberg平衡 ,计算法医学常用的各种概率 ,并与其他人群进行了比较。结果 :D1S5 4 9位点检出 7个等位基因 ,2 1种基因型。基因型频率的分布符合Hardy Weinberg平衡 (χ2 =11.5 ,P >0 .0 5 ,df=14 ) ,观测杂合度为 (75 .9± 2 .0 ) % ,耦合几率为 0 .0 87,亲子关系指数为 2 .0 7,个体识别率为 0 .913,期望排除率为 0 .5 2 5 ,多态信息含量为 0 .73。不同人群基因频率分布存在一定的差异。结论 :所得到的等位基因频率数据可为温州汉族人群法医个体识别 ,亲子鉴定及遗传学研究提供更多依据。

Objective:To get preliminary genotype and allele frequency distribution of D1S549 locus in Chinese Han population in Wenzhou area and to investigate its availability in forensic medicine.Methods:230 unrelative individuals of Han population living in Wenzhou were examined using PCR followed by PAGE and silver stains, and whether the frequency distribution of D1S549 locus genotypes mathches Hardy-Weinberg equilibrium was examined and probability used in the forensic medicine were analyzed and compared with those of the other populatians. Results:7 alleles and 21 genotypes of D1S549 were found in 230 unrelated individuals. The genotype frequency matched the Hardy-Weinberg equilibrium(χ2=11.5, P>0.05, df=14),The observed heterozygosity,matching probability,typical paternity index,power of exclusion,polymorphism information content(PIC) and power of discrimination(DP) were (75.9±2.0)%,0.087,2.07,0.525,0.73 and 0.913,respectively. The allele distribution varied in different races and population.Conclusion:The locus in this study was useful marker for individual identification and paternity test and for genetics purposes.