Typing of 48 Autosomal SNPs and Amelogenin with GenPlex SNP Genotyping System in Forensic Genetics

• NCJ Number: 225659
• Journal: Forensic Science International: Genetics Volume: 3 Issue: 1 Dated: December 2008 Pages: 1-6
• Author(s): Carmen Tomas; Michael Stangegaard; Claus Borsting; Anders Johannes Hansen; Niels Morling
• Date Published: December 2008
• Length: 6 pages
• Publication Format: Article
• Publication Type: Report (Study/Research)
• Language: English
• Country: Ireland

Annotation

This report presents the results of a preliminary study by the Single Nucleotide Polymorphisms (SNPs) for the Forensic IDentification of Persons (SNPforID consortium) that assessed the results and challenges of the GenPlex SNP genotyping system (Applied Biosystems), which is a new SNP genotyping system based on an initial PCR amplification followed by an oligo ligation assay (OLA).

Abstract

The study found that the GenPlex SNP genotyping system is a sensitive and reproducible SNP typing method. It was possible to automate the majority of the pipetting steps on a simple robot. Complete, reproducible SNP profiles were obtained from as little as 250 ng DNA. Full SNP profiles were obtained in the majority of the samples. The SNP profiles of duplicate testings were all concordant, and the results were concordant with those of the accredited, SBE-based SNP typing system except for one genotype in rs901398. The latter was most likely due to a mutation in the oligo-binding region close to SNP. The GenPlex SNP genotyping system is an attractive method for relationship testing. Further investigations are needed in order to evaluate the GenPlex method for SNP typing in crime case work. A total of 286 individuals from Denmark, Somalia, and Greenland were investigated with GenPlex using a Biomek 3000 (Beckman Coulter) robot. The results were compared to results obtained with an ISO 17025 accredited SNP typing assay based on single base extension (SBE). For the GenPlex SNP genotyping system, the OLA consists of the hybridization of allele and locus specific oligonucleotides (ASOs and LSOs) to PCR products and posterior ligation of ASOs and LSOs. The ligation products are immobilized to microtitre plates and reporter oligonucleotides (ZipChute probes) are hybridized to the ligation products. ZipChute probes are subsequently eluted and detected using capillary electrophoresis. 4 tables, 3 figures, and 13 references