The potential forensic utility of two single nucleotide polymorphisms in predicting biogeographical ancestry

Abstract

DNA-based prediction of an individual biogeographical ancestry would provide some investigative lead value in specific forensic cases. Recent studies have shown that single nucleotide polymorphisms (SNPs) in pigmentation-related genes such as SLC24A5 and OCA2 can be considered as ancestry informative markers (AIMs). These markers, usually expected with large differences in phenotype and allele frequency, need to be assessed and validate on the basis of comprehensive distribution data in specific populations. In the present work we typed these two SNPs (rs1800407 located in exon 12 of the OCA2 gene and rs16891982 in the SLC45A2 gene) in 413 individuals including 210 Hans and 203 Uygurs, who are closely related for geographic range in China. Our study generates new allelic data of Chinese population and reveals the significant different distribution of pigmentation-associated SNPs between Hans and Uygurs. It has been shown that the Hans has higher frequency of homozygote than the Uygurs within two SNPs; especially heterozygous genotypes were only observed in the latter group. Furthermore, our research confirms the earlier results and supports SNP rs1800407 and rs16891982 can potentially be selected for AIMs.