title: Haplotype-assisted characterization of germline mutations at short tandem repeat loci.
abstract: In this study, 98 families with 101 mutations were analyzed in depth in which a mutation had been observed at one of the four loci D3S1358, FGA, ACTBP2, and VWA. To determine the origin (male/female) of the mutation, five to seven polymorphic flanking markers were selected for each locus concerned and used to construct family-specific haplotypes. Additionally, all alleles of the STR system concerned were sequenced. With this duplicate approach, it was possible to identify the mutated structure and/or mutation event in the vast majority of cases. The ratio of one-step to two-step mutations was 100:1. The ratio of paternal to maternal mutations was 76:8. The ratio of gains to losses was 47:50. Also, the mutation rates in two systems, ACTBP2 and VWA, were clearly higher than those given in the literature.
authors.affiliation: Forensische Genetik, Röntgenstrasse 23, 48149, Münster, Germany.
authors.forename: Miriam
authors.initials: M
authors.lastname: Müller
authors.forename: Ulla
authors.initials: U
authors.lastname: Sibbing
authors.forename: Carsten
authors.initials: C
authors.lastname: Hohoff
authors.forename: Bernd
authors.initials: B
authors.lastname: Brinkmann
mesh_terms: D000483:Alleles; D005260:Female; D005819:Genetic Markers; D018095:Germ-Line Mutation; D006239:Haplotypes; D006801:Humans; D008297:Male; D010375:Pedigree; D017422:Sequence Analysis, DNA; D020080:Tandem Repeat Sequences
chemical_list: D005819:Genetic Markers