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01-05-2010 | Original Article

Haplotype-assisted characterization of germline mutations at short tandem repeat loci

Authors: Miriam Müller, Ulla Sibbing, Carsten Hohoff, Bernd Brinkmann

Published in: International Journal of Legal Medicine | Issue 3/2010

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.

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Title: Haplotype-assisted characterization of germline mutations at short tandem repeat loci
Authors: Miriam Müller
Ulla Sibbing
Carsten Hohoff
Bernd Brinkmann
Publication date: 01-05-2010
Publisher: Springer-Verlag
Published in: International Journal of Legal Medicine / Issue 3/2010
Print ISSN: 0937-9827
Electronic ISSN: 1437-1596
DOI: https://doi.org/10.1007/s00414-009-0377-0

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