title: 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.
authors.affiliation: Department of Forensic Molecular Biology, Erasmus MC-University Medical Center Rotterdam, The Netherlands. m.kayser@erasmusmc.nl
authors.forename: Manfred
authors.initials: M
authors.lastname: Kayser
authors.forename: Mark
authors.initials: M
authors.lastname: Vermeulen
authors.forename: Hans
authors.initials: H
authors.lastname: Knoblauch
authors.forename: Herbert
authors.initials: H
authors.lastname: Schuster
authors.forename: Michael
authors.initials: M
authors.lastname: Krawczak
authors.forename: Lutz
authors.initials: L
authors.lastname: Roewer
mesh_terms: D000483:Alleles; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005260:Female; D053803:Forensic Genetics; D005828:Genetics, Population; D005858:Germany; D006239:Haplotypes; D006801:Humans; D016013:Likelihood Functions; D008297:Male; D018895:Microsatellite Repeats; D008957:Models, Genetic; D009154:Mutation; D010375:Pedigree; D013997:Time Factors