title: SNPs and MALDI-TOF MS: tools for DNA typing in forensic paternity testing and anthropology.
abstract: DNA markers used for individual identification in forensic sciences are based on repeat sequences in nuclear DNA and the mitochondrial DNA hypervariable regions 1 and 2. An alternative to these markers is the use of single nucleotide polymorphisms (SNPs). These have a particular advantage in the analysis of degraded or poor samples, which are often all that is available in forensics or anthropology. In order to study the potential of SNP analysis in these fields, 41 SNPs were selected on the basis of following criteria: conservation, lack of phenotypic expression, and frequency of occurrence in populations. Thirty-six autosomal SNPs were used for genotyping 21 inclusionary and 3 exclusionary paternity cases. The behavior of 5 X-chromosome SNPs was analyzed in a French representative population. Our approach to SNP typing is a multiplex PCR based amplification followed by simultaneous detection by primer extension (PEX) analyzed by Matrix Assisted Laser Desorption Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF MS). The selected autosomal SNPs showed independent inheritance and gave clear results in paternity investigation. All X-SNPs were useful as both paternity and identification markers. PEX and MALDI-TOF MS, with their high sensitivity, precision and speed, gave a powerful method for forensic and anthropological exploitation of biallelic markers.
authors.affiliation: Institute of Legal Medicine, University Louis Pasteur, 67085 Strasbourg Cedex, France. petkovski@ulp.u-strasbg.fr
authors.forename: Elizabet
authors.initials: E
authors.lastname: Petkovski
authors.forename: Christine
authors.initials: C
authors.lastname: Keyser-Tracqui
authors.forename: Rémi
authors.initials: R
authors.lastname: Hienne
authors.forename: Bertrand
authors.initials: B
authors.lastname: Ludes
mesh_terms: D041321:Chromosomes, Human, X; D004247:DNA / Q000032:analysis; D004272:DNA, Mitochondrial / Q000032:analysis; D005260:Female; D018732:Forensic Anthropology; D006801:Humans; D008297:Male; D010334:Paternity; D020641:Polymorphism, Single Nucleotide; D012680:Sensitivity and Specificity; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization / Q000379:methods
chemical_list: D004272:DNA, Mitochondrial; D004247:DNA