Structure of new mutations in 2 STR systems

Int J Legal Med. 1995;107(4):201-3. doi: 10.1007/BF01428406.

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).

MeSH terms

  • Adult
  • Alleles
  • Child
  • DNA / genetics*
  • DNA Mutational Analysis*
  • Female
  • Gene Frequency / genetics
  • Genetic Markers / genetics*
  • Humans
  • Male
  • Paternity*
  • Phenotype
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Repetitive Sequences, Nucleic Acid / genetics*

Substances

  • Genetic Markers
  • DNA