title: Y-chromosomal microsatellite mutation rates in a population sample from northwestern Germany.
abstract: To estimate Y-chromosomal short tandem repeat (Y-STR) mutation rates, 15 loci (i.e., DYS19, DYS389 I/II, DYS390, and DYS393; DYS437, DYS438, DYS439, and DYS385; DYS391, DYS392, YCA II, and DXYS156) were analyzed in a sample of 1,029 father/son pairs from Westphalia, northwestern Germany. Among 15,435 meiotic allele transfers, 32 mutations were observed; thus, the mutation rate across all 15 Y-STR loci was 2.1 x 10(-3) per locus (95% C.I.: 1.5-3.0 x 10(-3)). With the exception of a three-repeat mutation at DYS385, all remaining mutations were single repeat mutations. Repeat losses were more frequent than gains (20:12), and the mutation rate appeared to increase with age. The Y haplogroups that were detected in the individuals showing a mutation reflect the haplogroup distribution in the Westphalian population. Additionally, the correlation of surnames and haplotypes was tested: Only 49 surnames occurred more than once, and only two men with the same rare surname shared the same haplotype. All other men with identical surnames carried different haplotypes.
authors.affiliation: Institut für Rechtsmedizin, Universitätsklinikum Münster, Röntgenstrasse 23, 48149 Münster, Germany.
authors.forename: Carsten
authors.initials: C
authors.lastname: Hohoff
authors.forename: Koji
authors.initials: K
authors.lastname: Dewa
authors.forename: Ulla
authors.initials: U
authors.lastname: Sibbing
authors.forename: Karolin
authors.initials: K
authors.lastname: Hoppe
authors.forename: Peter
authors.initials: P
authors.lastname: Forster
authors.forename: Bernd
authors.initials: B
authors.lastname: Brinkmann
mesh_terms: D000483:Alleles; D041322:Chromosomes, Human, Y; D005828:Genetics, Population; D005858:Germany; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation