Detection of C1236T, G2677T/A, and C3435T polymorphism of MDR1 by amplification refractory mutation system PCR

Abstract

C1236T, G2677T/A, and C3435T polymorphism of the multidrug resistance (MDR1) gene have substantial impact on expression or activity of P-glycoprotein (P-gp). We developed new methods based on amplification refractory mutation system (ARMS) to detect these polymorphisms. Tetra-primers amplification in a single tube was established to detect C1236T and C3435T polymorphism. For G2677T/A polymorphism, a two-step allele-specific amplification method was used. MDR1 genotypes of 177 Chinese subjects were determined by the methods we established. The methods we established were verified with gene sequencing. Gene frequencies of 1236C and 1236T were 37.8 and 62.2%, respectively; gene frequencies of 2677G, 2677T and 2677A were 44.1, 38.4 and 17.5%, respectively; the gene frequencies of 3435C and 3435T were 65.0 and 35.0%, respectively. The results were similar with other studies on Oriental subjects. The methods we established are simple, accurate, and economical, and can provide reliable approaches for determining MDR1 polymorphism.

Population pharmacokinetics and Bayesian estimation of tacrolimus exposure in Chinese liver transplant patients

“…Allele Frequency of ABCB1 1236C and 1236T was 38.8% (30.3%‐47.3%) and 61.2% (52.7%‐69.7%); 2677G, 2677T and 2677A were 40.4% (31.8%‐49.0%), 43.2% (34.5%‐51.9%) and 16.4% (9.91%‐22.9%); 3435C and 3435T were 61.6% (53.1%‐70.1%) and 38.4% (29.9%‐46.9%), respectively (Table ). The allele frequency of ABCB1 and CYP3A5 *3 was in consistent with previous studies on Chinese subjects . ABCB1 C3435T genotype had significant impact on the PK parameters of TAC (Figure ).…”

Association between ABCB1 (MDR1) Gene 3435 C>T Polymorphism and Colchicine Unresponsiveness of FMF Patients

“…37 Chen et al have studied many polymorphisms of MDR1 gene and detected that the C allele is more frequent than T allele. 38 Similar results were reported in another study from Spain population. 39 The clinical response of drugs can be affected with many environmental and genetic factors, and many enzymes and proteins are important in a lot of drugs' metabolism and transport.…”

Post-mortem ABCB1 genotyping reveals an elevated toxicity for female digoxin users

“…In contrast, Fig. 1 Frequency of mutant alleles for three single nucleotide polymorphisms in populations worldwide [23][24][25][26][27][28][29][30][31][32][33][34][35] we found that the proportion of mutant alleles in the Finnish population is considerably higher than elsewhere in Europe. This finding is in agreement with previous studies establishing Finns as genetic outliers among Europeans [14].…”