title: Structure of new mutations in 2 STR systems.
abstract: Isolated father/child mismatches in cases with a high probability of paternity (W > 99.9%) have been investigated using short tandem repeat (STR) systems. According to the high probability of paternity new mutations could be assumed in these cases. A new mutation could be observed in 3 cases using the STR system HumACTBP2. Two of these cases showed a deletion and 1 case an insertion of 1 repeat (AAAG-motif) which could be verified by sequencing. In another paternity case a new mutation--1-repeat insertion (TCTA-motif)--in the HumVWA system was detected and verified by sequencing. These findings led to a new mutation rate of 0.7% (n = 453 meioses) for HumACTBP2 and 0.2% for HumVWA (n = 484 meioses).
authors.affiliation: Institute of Legal Medicine, Westfälische Wilhelms-Universität, Münster, Germany.
authors.forename: B
authors.initials: B
authors.lastname: Brinkmann
authors.forename: A
authors.initials: A
authors.lastname: Möller
authors.forename: P
authors.initials: P
authors.lastname: Wiegand
mesh_terms: D000328:Adult; D000483:Alleles; D002648:Child; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics*; D006801:Humans; D008297:Male; D010334:Paternity; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D004247:DNA