Y-chromosome variation in a Norwegian population sample

Y-chromosome DNA profiles are promising tools in population genetics and fo rensic science. Here we present DNA profiles of 300 unrelated Y-chromosomes of Norwegian origin. The profile is composed of eight short tandem repeats (STRs) and one single nucleotide polymorphism (SNP). In more than 2/3 of t he haplotypes the modular structure in the 5' end of the minisatellite locu s DYF155S1 was revealed by minisatellite variant repeat PCR (MVR-PCR) These haplotypes were also typed for deletions of fragment 50f2C (DYF155S2). All ele distribution and paternity exclusion parameters are given for each mark er. The degree of haplotype diversity and its implication for statistics ar e evaluated. In the 300 samples 177 different haplotypes were encountered, of which 137 were observed once only. Analysis showed that the main source of variation is within the population. The Fst values were less than 0.015 in general. Haplotype grouping by the SNP demonstrated two haplogroups (Tat /T and Tat/C). Haplogroup Tat/C - found in 5.7% of the present material - i s the same haplogroup as encountered in 60% of Finnish males [Am. J. Hum. G enet. 62 (1998) 1171]. Mutation analysis in 150 father/son pairs (a total o f 1200 meiotic events) revealed an average mutation frequency of 0.0042 (95 % CI 0.0014-0.0097). (C) 2001 Elsevier Science Ireland Ltd. All rights rese rved.