Haplotypes study of three single nucleotide polymorphisms in multidrug resistance gene 1 in han nationality of Jiangsu province in China

Objective To investigate the single nucleotide polymorphisms (SNPs) and the distribution of their haplotypes in exon 12 C1236T,exon 21 G2677T/A and exon 26 C3435T of the multidrug resistance 1 (MDR1) gene in Han nationality of Jiangsu,China.Methods SNaPshot SNP typing was used to determine the genotypes of MDR1 C1236T,G2677T/A,C3435T in 170 healthy objects.The software UNPHASED was used for haplotype frequencies analysis.Results Of 170 chilidren,the frequency of 1236T allele,2677T allele,2677A allele and 3435T allele were 63.5%,37.4%,17.0% and 35.0%,respectively.The allelic distribution complied well with Hardy-Weinberg Equilibrium(HWE),and the differences were of no significance(P0.05).The data show evidence of pairwise linkage disequilibrium between the three common SNPs (C1236T,G2677T/A,C3435T).Haplotypes TTT(31.8%),TGC(25.3%),CGC(17.7%) and CAC(16.2%) were predominant.Conclusion The MDR1 SNPs and haplotypes distribution in Jiangsu Han population has its own characteristics.To determine the genotyping and haplotypes will be helpful for guiding individualized medication during the clinical application of associative drugs.