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.
This is a preview of subscription content, log in via an institution to check access.
References
Lászik A, Sotonyi P, Rand S, Hohoff C (2001) Frequency data for the STR locus ACTBP2 (SE33) in eight populations. Int J Legal Med 115:94–96
Shimada I, Rand S, Brinkmann B, Hohoff C (2002) Kurdish population data for 11 STR loci (ACTBP2, CSF1PO, FGA, TH01, TPOX, vWA, D3S1358, D5S818, D7S820, D13S317 and D21S11). Int J Legal Med 116:301–303
Shimada I, Brinkmann B, Tuyen NQ, Hohoff C (2002) Allele frequency data for 16 STR loci in the Vietnamese population. Int J Legal Med 116:246–248
Banaschak S, Rolf B, Brinkmann B (2000) Influence of different staining techniques on the DNA analysis of histological sections. Int J Legal Med 113:114–116
Junge A, Lederer T, Braunschweiger G, Madea B (2003) Validation of the multiplex kit genRESMPX-2 for forensic casework analysis. Int J Legal Med 117:317–325
Coticone RS, Oldroyd N, Philips H, Foxall P (2004) Development of the AmpflSTR SEfilerTMPCR amplification kit: a new multiplex containing the highly discriminating ACTBP2 (SE33) locus. Int J Legal Med 118:224–234
Leibelt C, Budowle B, Collins P et al. (2003) Identification of a D8S1179 primer binding site mutation and the validation of a primer designed to recover null alleles. Forensic Sci Int 133:220–227
Han GR, Song ES, Hwang JJ (2001) Non-amplification of an allele of the D8S1179 locus due to a point mutation. Int J Legal Med 115:45–47
Hendrickson BC, Leclair B, Forrest S et al. (2004) Accurate STR allele designations at the FGA and vWA loci despite primer site polymorphisms. J Forensic Sci 49:1–5
Boutrand L, Egyed B, Füredi S, Mommers N, Mertens G, Vandenberghe A (2001) Variations in primer sequences are the origin of allele drop-out at loci D13S317 and CD4. Int J Legal Med 114:295–297
Watanabe G, Umetsu K, Yuasa I, Suzuki T (1998) Simultaneous determination of STR polymorphism and a new nucleotide substitution in its flanking region at the CD4 locus. J Forensic Sci 43:733–737
Clayton TM, Hill SM, Denton LA, Watson SK, Urquhart AJ (2004) Primer binding site mutations affecting the typing of STR loci contained within the AMPFlSTR SGM Plus kit. Forensic Sci Int 139:255–259
Hering S, Edelmann J, Dreßler J (2002) Sequence variations in the primer binding regions of the highly polymorphic STR system SE33. Int J Legal Med 116:365–367
Polymeropoulos MH, Rath DS, Xiao H, Merril CR (1992) Tetranucleotide repeat polymorphism at the human beta-actin related pseudogene H-beta-Ac-psi-2 (ACTBP2). Nucleic Acids Res 20:1432
Acknowledgement
The authors thank Karin Rauße, Marianne Schürenkamp, Marjon Eppink and Jenny Bartsch for excellent technical assistance. This work is part of the Ph.D. thesis of M.H.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Heinrich, M., Müller, M., Rand, S. et al. Allelic drop-out in the STR system ACTBP2 (SE33) as a result of mutations in the primer binding region. Int J Legal Med 118, 361–363 (2004). https://doi.org/10.1007/s00414-004-0473-0
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00414-004-0473-0