Relating two deep-rooted pedigrees from Central Germany by high-resolution Y-STR haplotyping

Abstract 

Y-STR haplotyping is a powerful forensic and anthropological tool for identifying male lineages. We used high-resolution Y-STR haplotyping to evaluate the possibility of a blood relationship between two deep-rooted paternal genealogies with the same surname and originating from the same geographical region in Central Germany. One pedigree comprised 13 generations covering >450 years, the other comprised nine generations covering >300 years. Of the 68 loci tested, 64 (94%) consistently had the same allele in all males in the two pedigrees (except for some unambiguously sporadic mutations within pedigrees). Only four Y-STRs had a consistent allelic difference of exactly one repeat between the two pedigrees. These findings suggested that the two pedigrees were paternally related, and a conservative assessment taking average mutation rates and the available local haplotype frequencies for nine loci into account yielded a likelihood ratio of 8.2:1 in favour of this hypothesis. Our study thus highlights the power of Y-STR haplotyping to identify male lineages. It also shows that families can be linked to common ancestors on the basis of Y-STR data, even if these individuals lived several hundred years ago. However, the potential of Y-STR haplotyping could still not be fully exploited in our case due to a lack of appropriate population frequency data for all analysed Y-STR loci. This shortcoming makes a strong case for more comprehensive haplotype databases, including more samples and larger numbers of loci.

Keywords: Y-STR, Deep-rooted pedigree, Mutation, Likelihood