A novel technique for NOD2/CARD15 genotyping using PCR-SSP. J Immunol Methods 2007 Oct 31;327(1-2):82-7
Date
08/28/2007Pubmed ID
17719603DOI
10.1016/j.jim.2007.07.013Scopus ID
2-s2.0-34548816176 (requires institutional sign-in at Scopus site) 2 CitationsAbstract
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.
Author List
Mayor NP, Shaw BE, Keshav S, Madrigal JA, Marsh SGAuthor
Bronwen E. Shaw MBChB, PhD Center Director, Professor in the Medicine department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
BiomarkersDNA 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