TY - JOUR
T1 - Forensic validation of the SNPforID 52-plex assay
AU - Musgrave-Brown, Esther
AU - Ballard, David
AU - Balogh, Kinga
AU - Bender, Klaus
AU - Berger, Burkhard
AU - Bogus, Magdalena
AU - Børsting, Claus
AU - Brion, María
AU - Fondevila, Manuel
AU - Harrison, Cheryl
AU - Oguzturun, Ceylan
AU - Parson, Walther
AU - Phillips, Chris
AU - Proff, Carsten
AU - Ramos-Luis, Eva
AU - Sanchez Sanchez, Juan Jose
AU - Sánchez Diz, Paula
AU - Sobrino Rey, Bea
AU - Stradmann-Bellinghausen, Beate
AU - Thacker, Catherine
AU - Carracedo, Angel
AU - Morling, Niels
AU - Scheithauer, Richard
AU - Schneider, Peter M
AU - Syndercombe-Court, Denise
N1 - Keywords: Alleles; Analysis of Variance; Cooperative Behavior; DNA; DNA Fingerprinting; Europe; Forensic Genetics; Genotype; Humans; Laboratories; Microsatellite Repeats; Polymorphism, Single Nucleotide; Sensitivity and Specificity
PY - 2007
Y1 - 2007
N2 - The advantages of single nucleotide polymorphism (SNP) typing in forensic genetics are well known and include a wider choice of high-throughput typing platforms, lower mutation rates, and improved analysis of degraded samples. However, if SNPs are to become a realistic supplement to current short tandem repeat (STR) typing methods, they must be shown to successfully and reliably analyse the challenging samples commonly encountered in casework situations. The European SNPforID consortium, supported by the EU GROWTH programme, has developed a multiplex of 52 SNPs for forensic analysis, with the amplification of all 52 loci in a single reaction followed by two single base extension (SBE) reactions which are detected with capillary electrophoresis. In order to validate this assay, a variety of DNA extracts were chosen to represent problems such as low copy number and degradation that are commonly seen in forensic casework. A total of 40 extracts were used in the study, each of which was sent to two of the five participating laboratories for typing in duplicate or triplicate. Laboratories were instructed to carry out their analyses as if they were dealing with normal casework samples. Results were reported back to the coordinating laboratory and compared with those obtained from traditional STR typing of the same extracts using Powerplex 16 (Promega). These results indicate that, although the ability to successfully type good quality, low copy number extracts is lower, the 52-plex SNP assay performed better than STR typing on degraded samples, and also on samples that were both degraded and of limited quantity, suggesting that SNP analysis can provide advantages over STR analysis in forensically relevant circumstances. However, there were also additional problems arising from contamination and primer quality issues and these are discussed.
AB - The advantages of single nucleotide polymorphism (SNP) typing in forensic genetics are well known and include a wider choice of high-throughput typing platforms, lower mutation rates, and improved analysis of degraded samples. However, if SNPs are to become a realistic supplement to current short tandem repeat (STR) typing methods, they must be shown to successfully and reliably analyse the challenging samples commonly encountered in casework situations. The European SNPforID consortium, supported by the EU GROWTH programme, has developed a multiplex of 52 SNPs for forensic analysis, with the amplification of all 52 loci in a single reaction followed by two single base extension (SBE) reactions which are detected with capillary electrophoresis. In order to validate this assay, a variety of DNA extracts were chosen to represent problems such as low copy number and degradation that are commonly seen in forensic casework. A total of 40 extracts were used in the study, each of which was sent to two of the five participating laboratories for typing in duplicate or triplicate. Laboratories were instructed to carry out their analyses as if they were dealing with normal casework samples. Results were reported back to the coordinating laboratory and compared with those obtained from traditional STR typing of the same extracts using Powerplex 16 (Promega). These results indicate that, although the ability to successfully type good quality, low copy number extracts is lower, the 52-plex SNP assay performed better than STR typing on degraded samples, and also on samples that were both degraded and of limited quantity, suggesting that SNP analysis can provide advantages over STR analysis in forensically relevant circumstances. However, there were also additional problems arising from contamination and primer quality issues and these are discussed.
U2 - 10.1016/j.fsigen.2007.01.004
DO - 10.1016/j.fsigen.2007.01.004
M3 - Journal article
C2 - 19083753
SN - 1872-4973
VL - 1
SP - 186
EP - 190
JO - Forensic Science International: Genetics
JF - Forensic Science International: Genetics
IS - 2
ER -