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

Authors: Heinrich, Marielle¹; Müller, Miriam¹; Rand, Steven¹; Brinkmann, Bernd²; Hohoff, Carsten¹

Source: International Journal of Legal Medicine, Volume 118, Number 6, December 2004 , pp. 361-363(3)

Publisher: Springer

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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.

Keywords: ACTBP2; Mutation; Primer binding region; Multiplex; Database

Document Type: Research article

DOI: http://dx.doi.org/10.1007/s00414-004-0473-0

Affiliations: 1: Institut für Rechtsmedizin, Universitätsklinikum Münster, Röntgenstrasse 23, 48149, Münster, Germany, 2: Institut für Rechtsmedizin, Universitätsklinikum Münster, Röntgenstrasse 23, 48149, Münster, Germany, Email: remed@uni-muenster.de

Publication date: 2004-12-01