Slow and fast evolving markers typing in Modena males (North Italy)

Abstract 

One hundred thirty male individuals, strictly selected for their geographical origin and for typical regional surnames were submitted to the analysis. 17 STRs (short tandem repeats) loci and 19 SNPs binary markers (single nucleotide polymorphisms) of male-specific region of the Y chromosome (MSY) were typed to well characterize the selected population of Modena province. The availability of joint distribution of MSY haplotypes and haplogroup frequencies is becoming an important tool for both human evolutionary studies and forensic investigation, but large databases of complete Y-lineages are needed for a better understanding of the power of the combined use of Y-specific polymorphisms.

A total of 129 haplotypes and 9 haplogroups were found and R1b haplogroup with a frequency of 67.7% was the most frequent, as expected because of the geographical location of the sample (Northwestern Italy). The Modena Y-lineages (STRs and SNPs independently) were also compared with published data of other neighbouring populations’ samples.

Keywords: Forensic science, Y-chromosome, Single nucleotide polymorphisms, Short tandem repeat, Population genetics