title: Forensic typing of autosomal SNPs with a 29 SNP-multiplex--results of a collaborative EDNAP exercise.
abstract: We report the results of an inter-laboratory exercise on typing of autosomal single nucleotide polymorphisms (SNP) for forensic genetic investigations in crime cases. The European DNA Profiling Group (EDNAP), a working group under the International Society for Forensic Genetics (ISFG), organised the exercise. A total of 11 European and one US forensic genetic laboratories tested a subset of a 52 SNP-multiplex PCR kit developed by the SNPforID consortium. The 52 SNP-multiplex kit amplifies 52 DNA fragments with 52 autosomal SNP loci in one multiplex PCR. The 52 SNPs are detected in two separate single base extension (SBE) multiplex reactions with 29 and 23 SNPs, respectively, using SNaPshot kit, capillary electrophoresis and multicolour fluorescence detection. For practical reasons, only the 29 SBE multiplex reaction was carried out by the participating laboratories. A total of 11 bloodstains on FTA cards including a sample of poor quality and a negative control were sent to the laboratories together with the essential reagents for the initial multiplex PCR and the multiplex SBE reaction. The total SNP locus dropout rate was 2.8% and more than 50% of the dropouts were observed with the poor quality sample. The overall rate of discrepant SNP allele assignments was 2.0%. Two laboratories reported 60% of all the discrepancies. Two laboratories reported all 29 SNP alleles in all 10 positive samples correctly. The results of the collaborative exercise were surprisingly good and demonstrate that SNP typing with SBE, capillary electrophoresis and multicolour detection methods can be developed for forensic genetics.
authors.affiliation: Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health Sciences, University of Copenhagen, 11 Frederik V's Vej, DK-2100 Copenhagen, Denmark.
authors.forename: J J
authors.initials: JJ
authors.lastname: Sanchez
authors.forename: C
authors.initials: C
authors.lastname: Børsting
authors.forename: K
authors.initials: K
authors.lastname: Balogh
authors.forename: B
authors.initials: B
authors.lastname: Berger
authors.forename: M
authors.initials: M
authors.lastname: Bogus
authors.forename: J M
authors.initials: JM
authors.lastname: Butler
authors.forename: A
authors.initials: A
authors.lastname: Carracedo
authors.forename: D Syndercombe
authors.initials: DS
authors.lastname: Court
authors.forename: L A
authors.initials: LA
authors.lastname: Dixon
authors.forename: B
authors.initials: B
authors.lastname: Filipović
authors.forename: M
authors.initials: M
authors.lastname: Fondevila
authors.forename: P
authors.initials: P
authors.lastname: Gill
authors.forename: C D
authors.initials: CD
authors.lastname: Harrison
authors.forename: C
authors.initials: C
authors.lastname: Hohoff
authors.forename: R
authors.initials: R
authors.lastname: Huel
authors.forename: B
authors.initials: B
authors.lastname: Ludes
authors.forename: W
authors.initials: W
authors.lastname: Parson
authors.forename: T J
authors.initials: TJ
authors.lastname: Parsons
authors.forename: E
authors.initials: E
authors.lastname: Petkovski
authors.forename: C
authors.initials: C
authors.lastname: Phillips
authors.forename: H
authors.initials: H
authors.lastname: Schmitter
authors.forename: P M
authors.initials: PM
authors.lastname: Schneider
authors.forename: P M
authors.initials: PM
authors.lastname: Vallone
authors.forename: N
authors.initials: N
authors.lastname: Morling
mesh_terms: D000483:Alleles; D001801:Blood Stains; D016172:DNA Fingerprinting / Q000592:standards*; D019075:Electrophoresis, Capillary; D005060:Europe; D053803:Forensic Genetics / Q000592:standards*; D005838:Genotype; D006801:Humans; D007753:Laboratories / Q000592:standards*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012091:Repetitive Sequences, Nucleic Acid; D014481:United States