IJMEG Copyright © 2010-present. All rights reserved. Published by e-Century Publishing Corporation, Madison, WI 53711
Int J Mol Epidemiol Genet 2012;3(4):314-320

Original Article
A linkage and association analysis study in the multidrug resistance gene 1
(mdr1) in renal patients

Mohammad R Bazrafshani, Kay V Poulton, Merat Mahmoodi

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

Received June 19, 2012; Accepted October 11, 2012; Epub November 15, 2012; Published November 30, 2012

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. (IJMEG1206001).

Keywords: MDR, gene, single-nucleotide polymorphism, linkage disequilibrium, haplotype, immunosuppressive

Address all correspondence to:
Dr. MR Bazrafshan
Department of Medical Genetics Faculty of Medicine
Kerman University of Medical Sciences
Kerman, Iran.
Tel: +98 (0) 341 271 1324; Fax: +98 (0) 341 271 1336
E-mail: mr_ bazrafshani@ kmu.ac.ir