Validation of a single nucleotide polymorphism (SNP) typing assay with 49 SNPs for forensic genetic testing in a laboratory accredited according to the ISO 17025 standard

Forensic Science International. Genetics
C BørstingN Morling

Abstract

A multiplex assay with 49 autosomal single nucleotide polymorphisms (SNPs) developed for human identification was validated for forensic genetic casework and accredited according to the ISO 17025 standard. The multiplex assay was based on the SNPforID 52plex SNP assay [J.J. Sanchez, C. Phillips, C. Børsting, K. Balogh, M. Bogus, M. Fondevila, C.D. Harrison, E. Musgrave-Brown, A. Salas, D. Syndercombe-Court, P.M. Schneider, A. Carracedo, N. Morling, A multiplex assay with 52 single nucleotide polymorphisms for human identification, Electrophoresis 27 (2006) 1713-1724], where 52 fragments were amplified in one PCR reaction. The SNPs were analysed by single base extension (SBE) and capillary electrophoresis. Twenty-three of the original SBE primers were altered to improve the overall robustness of the assay and to simplify the analysis of the SBE results. A total of 216 samples from 50 paternity cases and 33 twin cases were typed at least twice for the 49 SNPs. All electropherograms were analysed independently by two expert analysts prior to approval. Based on these results, detailed guidelines for analysis of the SBE products were developed. With these guidelines, the peak height ratio of a heterozygous allele call or the signal ...Continue Reading

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Citations

Jun 8, 2010·Forensic Science, Medicine, and Pathology·Shanan S Tobe, Adrian Linacre
Oct 20, 2011·Forensic Science, Medicine, and Pathology·Kerstin Montelius, Bertil Lindblom
Dec 10, 2013·Forensic Science International. Genetics·Eszter RockenbauerNiels Morling
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