MDR1 gene single nucleotide polymorphism and haplotype in Chongqing Han populations
AIM: To investigate the genetic variability of multi ple drug resistance 1 ( MDR1 ) gene C1236T, G2677T/A and C3435T polymorphism and haplotype structure in Chongqing Han populations. METHODS: Genotypes of the MDR1 C1236T, G2677T/A and C3435T were determined in 196 unrelated Chongqing Han healthy populations(112 males, 84 females) using polymerase chain reaction followed by restriction fragment length polymorphism analysis (PCR-RELP). Frequency of haplotypes and linkage disequilibrium of MDR1 gene were analyzed by SHEsis programs. RESULTS: For C1236T polymorphism the frequency of 1236C allele is 33.7% , 1236T allele is 66.3% ; for G2677T/A polymorphism the frequency of 2677G allele is 44. 4% , 2677T allele is 43. 1% and 2677A allele is 12.5% ; for C3435T polymorphism the frequency of 3435C allele is 56. 4% , 3435T allele is 43. 6% ; Three major haplotypes ( defined as more than 10% occurrence for each) of 1236T-2677T-3435T, 1236T-2677G-3435C and 1236C-2677G-3435C were observed in Chongqing Han populations, the frequency of TTT is 31.1% , TGC is 21.7% and CGC is 15.5%. CONCLUSION: This is the first study to show the C1236T, G2677T/A and C3435T polymorphism of MDR1 in Chongqing Han populations. The genotype and haplotype analysis from these data may be used as a basis for studies on the relationship between MDR1 genotypes and drug efficacy, drug toxicity, disease susceptibility in Chongqing Han populations.
multiple drug resistance 1 ( MDR1)single nucleo-tide polymorphisms (SNP)haplotype
NETL
NSTL
万方数据
维普
