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The Nucleotide-binding Oligomerisation Domain (NOD) 2 protein is encoded by the Caspase Recruitment Domain (CARD) 15 gene and has a critical role in innate immunity. Recent studies have implicated Single Nucleotide Polymorphisms (SNPs) of the NOD2/CARD15 gene with the onset of several Inflammatory Bowel Disorders (Crohn's Disease, Blau syndrome) and the progression of several malignant diseases. The identification of SNPs in the genotypes of donor and recipient pairs prior to haematopoietic stem cell transplantation have also been shown to predict for a worse outcome, specifically causing increases in the incidence and severity of acute Graft-versus-Host disease, disease relapse and mortality. In light of these widespread areas of interest, we have developed a Polymerase Chain Reaction assay using Sequence Specific Primers (PCR-SSP) to identify the three SNPs that have been implicated, (SNPs 8, 12 and 13). The assay has proven to be a rapid and accurate method of performing NOD2/CARD15 genotyping when compared to other techniques described to date.

Original publication

DOI

10.1016/j.jim.2007.07.013

Type

Journal article

Journal

J Immunol Methods

Publication Date

31/10/2007

Volume

327

Pages

82 - 87

Keywords

Biomarkers, DNA Primers, Exons, Genetic Predisposition to Disease, Genotype, Graft vs Host Disease, Hematopoietic Stem Cell Transplantation, Humans, Inflammatory Bowel Diseases, Nod2 Signaling Adaptor Protein, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Transplantation, Homologous