海南黎族21个非DNA联合索引系统基因座的遗传多态性

Genetic polymorphisms of 21 non-combined of DNA index system short tandem repeat loci in Hainan Li population

目的调查海南黎族21个非DNA联合索引系统(combined DNA index system,CODIS)基因座的遗传多态性,探讨其在法医亲子鉴定、个体识别及群体遗传学研究中的意义。方法采用荧光标记复合扩增和毛细管电泳技术,对339名海南黎族无关个体的21个非CODIS基因座进行基因分型,并计算遗传学参数。结果21个非CODIS基因座在339例海南黎族无关个体中共检出173个等位基因,489种基因型,基因频率在0.0010~0.5434之间,基因型频率在0.0020~0.3274之间,杂合度分布在0.639~0.833之间,个人识别能力为0.803~0.948,三联体非父排除率为0.416~0.584,二联体非父排除率为0.140~0.238,多态信息含量为0.57~0.81,累积个人识别能力大于0.99999999999999,三联体累积非父排除率为0.999999883211752,二联体累积非父排除率为0.987266。结论D6S474的21个短串联重复序列基因座在海南黎族群体中具有良好的遗传多态性,在个体识别及亲子鉴定中是一个高效的检测系统,可作为补充基因座用于单亲、疑难、亲缘鉴定和突变亲子鉴定案件中。

Objective To investigate the genetic polymorphisms of 21 non-combined DNA index system short tandem repeat(STR)loci in Hainan Li population.Methods DNA samples from 339 unrelated healthy individuals of Li population from Hainan Province were extracted and amplified with fluorescence labeled multiplex PCR system.PCR products were electrophoresed on an Applied Biosystems®3130 Genetic Analyzer following the manufacturer’s instructions.Allele designation was performed with a GeneMapper ID-X by comparison with the allele ladder provided by the corresponding kit.Results A total of 173 alleles and 489 genotypes were observed for the 21 STR loci,respectively.The frequencies of alleles and genotypes were 0.0010-0.5434 and 0.0020-0.3274,respectively.The heterozygosity varied from 0.639 to 0.833.Discrimination power(DP)was 0.803-0.948,power of exclusion for trio-paternity was 0.416-0.584,power of exclusion for duo-paternity was 0.140-0.238,the polymorphism information content(PIC)was 0.57-0.81,respectively.The total discrimination power(TDP),cumulative probability of exclusion for trio-paternity testing(CPE-trio)and cumulative probability of exclusion for duo-paternity testing(CPE-duo)were 0.99999999999999,0.999999883211752,and 0.987266,respectively.Conclusion The 21 STR loci are highly polymorphic and informative in the studied population and can be employed as supplementary loci in duo-paternity testing or cases with variant circumstances.