Y-chromosome polymorphisms and ethnic group -a combined STR and SNP approach in a population sample from northern Italy

Abstract

Aim: To find an association between Y chromosome polymorphisms and some ethnic groups. Methods: Short tandem repeats (STR) and single-nucleotide polymorphisms (SNP) on the Y chromosome were typed in 311 unrelated men from four different ethnic groups -Italians from northern Italy, Albanians, Africans from the Maghreb region, and Indo-Pakistanis, using the AmpFlSTR® Yfiler PCR Amplification Kit and the SNaPshot Multiplex Kit. Results: STRs analysis found 299 different haplotypes and SNPs analysis 11 different haplogroups. Haplotypes and haplogroups were analyzed and compared between different ethnic groups. Significant differences were found among all the population groups, except between Italians and Indo-Pakistanis and between Albanians and Indo-Pakistanis. Conclusions: Typing both STRs and SNPs on the Y chromosome could become useful in determining ethnic origin of a potential suspect.