Y-chromosomal haplogroups in male identification: study of a population sample from Portugal (central area)

Abstract

Background: The non-recombining portion of the Y chromosome represents a valuable tool for the study of human population history. The haploid, non-crossing-over behaviour of Y chromosome gives potentials in many aspects resembling the maternally inherited mtDNA. The advantages for forensic casework are obvious. The haploid state makes mixture patterns much simpler; in female/male stain mixtures, pure male DNA profiles may be obtained. Y-chromosome markers are also of extraordinary value to solve selected paternity cases. Methods: Y-chromosomal biallelic markers have been investigated in a population sample from central Portugal (n=117). By combining the allelic state of 10 biallelic markers (YAP-DYS287, SRY-8299, 92R7, 12f2, SRY-1532, SRY-2627, Tat, SY81, M9, LLY22g), we could define the haplogroup to which each sample belonged. Results: This population defined 10 different haplogroups, haplogroup 1 being the most frequent. Conclusion: This study showed a substantial similarity with other Iberian studies; however, this population presents a larger diversity.