Molecular analysis of the PGM1 phenotype

Abstract Historically, protein variants have been investigated for the purposes of human identification using electrophoresis and immunological techniques. These methods require considerable operator expertise and are often time consuming and labour intensive. Many of the reagents employed carry potential health risks and are becoming more difficult to obtain from suppliers. We have developed an assay for DNA analysis of protein polymorphisms and red blood cell markers, using traditional typing methodology to validate the results. The SNPs underlying the polymorphic forms of selected classical systems were identified from published literature and the NCBI SNP database. Samples were genotyped using the ABI PRISM ® SNaPshot™ Multiplex System (Applied Biosystems). A total of 93 samples were analysed in duplicate for a number of systems, but we describe only the results for PGM here. Concordance between the two techniques was observed all cases. Classical markers can be easily incorporated into routine laboratory testing thereby enabling reviews of ‘cold cases' to be conducted. Indeed, we have used this technique in two cold cases at this laboratory and these are discussed.