22个常染色体单核苷酸多态性的群体遗传学研究

A population genetic study of 22 autosomal loci of single nucleotide polymorphisms

目的评估非二态单核苷酸多态性（single nucleotide polymorphism，SNP）的遗传多态性及其法医学鉴别效能。方法采集100名广东东莞汉族个体，应用基质辅助激光解吸电离飞行时间质谱方法对22个常染色体SNP进行分型。结果广东汉族群体中，9个SNP观察到1个等位基因，4个SNP是二态SNP，9个SNP观察到3个等位基因。13个多态性sNP的累积个人识别率和非父排除率分别为0．99998、0．9330，9个非二态SNP的累积个人识别率和非父排除率分别为0．9998、0．8956。单亲鉴定时，13个多态性SNP的累积非父排除率分别为0．7266，9个非二态SNP的累积非父排除率为0．6405。结论个人识别和亲权鉴定方面，非二态SNP具有较高的鉴别效能。

Objective To evaluate polymorphisms and forensic efficiency of 22 non-binary single nucleotide polymorphism （SNP） loci. Methods One hundred ethnic Han Chinese individuals were recruited from Dongguan, Guangdong. The 22 loci were genotyped with matrix-assisted laser desorption/ionization time of flight mass spectrometry （MALDI-TOF MS）. Results Nine loci were found with a single allele, 4 loci were found to be biallelic, whilst 9 loci were found to have 3 alleles. For 13 polymorphic loci, the combined discrimination power and power of exclusion were 0. 999 98 and 0. 9330, respectively. For the 9 non-biallelie loci, the combined discrimination power and power of exclusion were 0. 9998 and 0. 8956, respectively. For motherless cases, the combined power of exclusion was 0. 6405 for 13 polymorphic SNPs and 0. 6405 for 9 non-binary SNPs. Conclusion Non-binary loci have a greater discrimination power and exclusion power per SNP.