Allelic drop-out in the STR system ACTBP2 (SE33) as a result of mutations in the primer binding region

Int J Legal Med. 2004 Dec;118(6):361-3. doi: 10.1007/s00414-004-0473-0. Epub 2004 Aug 20.

Abstract

In the course of routine genotyping of forensic reference samples by multiplex PCR, an allelic drop-out due to mutations in the primer binding regions of the highly polymorphic STR marker ACTBP2 was observed in 17 samples. The variation rate was estimated to be 0.0014 (95% confidence interval: 0.0006-0.003). The most frequently found mutation was an G to A transition in the reverse primer binding region which was present in 14 out of 17 cases. To overcome the problem we have added a modified reverse primer to different multiplex kits that led to the correct genotype.

MeSH terms

  • Binding Sites
  • DNA Fingerprinting / methods*
  • DNA Primers / genetics*
  • Humans
  • Loss of Heterozygosity / genetics*
  • Tandem Repeat Sequences / genetics*

Substances

  • DNA Primers