title: A linkage and association analysis study in the multidrug resistance gene 1 (mdr1) in renal patients.
abstract: Several investigations demonstrated that the polymorphisms of multidrug resistance gene (MDR1) gene contribute to interindividual variability in bioavailability and tissue distribution of its substrates. Genotyping of closely spaced single-nucleotide polymorphism (SNP) markers frequently yields highly correlated data, owing to extensive linkage disequilibrium (LD) between markers. The product of multidrug resistance gene (P-gp) is an important molecule, which regulating the bioavailability of many drugs, including calcineurin inhibitors. It also reported that some MDR1 gene polymorphisms (such as 3435C>T) was associated with significantly reduced intestinal P-gp expression in T/T homozygotes. The aim of this study is to develop genotyping assays for polymorphisms of the MDR1 gene, which are believed to have functional properties and to assess the distribution of variant alleles in renal patients (UK Caucasoid). A total of ten polymorphisms in the MDR-1 gene were selected for analysis. Haplotype assays were performed by using EH programme in 172 individuals. The following possible haplotype was apparent (G-41, C-145, C-129, C+139, C+1236, G+2677, G+2956, C+3435, C+4030 and A+4036). This finding suggests the importance of haplotype assignment for the MDR1 gene.
authors.affiliation: Transplantation Laboratory, Manchester Institute of Nephrology and Transplantation, Manchester Royal Infirmary Manchester, UK ; Department of Medical Genetics, Faculty of Medicine, Kerman University of Medical Sciences Kerman, Iran.
authors.forename: Mohammad R
authors.initials: MR
authors.lastname: Bazrafshani
authors.forename: Kay V
authors.initials: KV
authors.lastname: Poulton
authors.forename: Merat
authors.initials: M
authors.lastname: Mahmoodi