Abstract

Background and Aim: Single nucleotide polymorphisms (SNPs) are being increasingly used by forensic laboratories. In the Iranian population, few studies have been reported that aim to investigate allelic frequencies and determine genetic variation of SNPs based on SNPforID database. The goal of the current study was to evaluate the population genetic diversity by genotyping of 25 informative autosomal single nucleotide polymorphisms residing in Gilan province in Northern Iran, using the SNaPshot assay. Methods: In this cross-sectional study, the results of the bioinformatics analysis indicated that at least 25 autosomal loci SNP could help discriminate between Iranian ethnic groups. A total of 53 unrelated individuals from the Gilakis ethnicity group provided blood samples for extraction of genomic DNA by the RGDE method. The SNapShot method was used to genotyping 25 selected SNPs on the 3110xl ABI Genetic Analyzer. Statistical analysis was conducted using the Arlequin 3.5, GeneAlex 6.5 and GeneMapper 5.0 software. Results: The mean heterozygosity was 0.428. The minimum heterozygosity observed was 0.190 that related to rs938283. Minor allele frequency (MAF) for rs938283 was 0.105. There was significant deviation in allelic frequencies from Hardy-Weinberg equilibrium for all the studied SNPs except rs1382387. The calculated FST values presented among Gilak and three Iranian ethnic groups including Kurd, Persian ad Lors were not significantly genetic different. Conclusion: Evaluation of the 25 autosomal SNP simultaneously enabled discrimination among ethnic groups within the population. The results presented Gilakis ethnicity genetically when compared to the other ethnicity, Lor, Persian and Kurdish, are similar. The SnapShot method has appropriate sensitivity and specificity to simultaneously genotype SNPs. © 2018 University of Toronto Press Inc. All Rights Reserved.