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

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.

Characterisation of variant alleles in the STR systems D2S1338, D3S1358 and D19S433

“…Finally, understanding STR particularities such as primer binding site mutations [12] and off-ladder alleles should assist the future development of improved reagents to type STR loci correctly. Fig.…”

Y-STR haplotypes in populations from the Eastern Mediterranean region of Turkey

“…T96: 9.2 at DXYS156-X : (TAAAA) 7 TA (TAAAA) 2 T38: 12.2 at DYS385 : (GAAA) 12 GA GAG (A) 5 Both variants can be explained as dinucleotide insertions within or at the very end of the repetitive region.…”

“…Typing was carried out by capillary gel electrophoresis on an ABI PRISM 310 Genetic Analyzer and use of Genotyper 2.5.2 software (Applied Biosystems, Darmstadt, Germany). Variant alleles were sequenced on both strands according to [5]. Briefly stated, the samples were amplified using unlabelled primers [4,6] and, after eluting the alleles of interest from polyacrylamide gels, the sequence was determined using the BigDye Terminator kit v2.0 and an ABI PRISM 310 Genetic Analyzer.…”

Mutations or exclusion: an unusual case in paternity testing

“…Polymerase chain reaction (PCR) amplification was performed according to the protocols and the manufacturers' instructions for MPX-2 (Junge et al 2003; SERAC, Bad Homburg, Germany) and SE-Filer (Heinrich et al 2004) and Profiler (ABI, Weiterstadt, Germany). Primer sequences and amplification conditions for the additional STR systems were as follows: D8S320, Junge et al (2001); D12S391, Junge and Madea (1998); D10S2325 and D1S1656, Wiegand et al (1999); and Penta D and E, Barbarii et al (2004).…”