Related Experiment Video
Updated: Jul 10, 2026

Investigation of Genetic Dependencies Using CRISPR-Cas9-based Competition Assays
Published on: January 7, 2019
Genomic variation at the MDR1 promoter and P-glycoprotein expression and activity in AML patients
J J Lourenço1, R C Maia, M A M Scheiner
1Instituto Nacional de Câncer, Coordenação de Pesquisa, Genetics Division, Rio de Janeiro, RJ, Brazil.
Abstract:
Sequence variation at the proximal MDR1 promoter of 72 patients with acute myeloid leukemia (AML) was investigated and its association with P-glycoprotein (Pgp) expression and activity using flow cytometry were analyzed. Two variants were found: -129T/C and a non-described A/T substitution at position +68 of intron 1 in one patient. Three different genotypes were identified for single nucleotide polymorphism (SNP) -129T/C: 60 patients TT, 11 individuals TC, and 1 CC. No significant association was found between SNP variants and Pgp activity and expression, at protein level. Our data also suggested that an evaluation of MDR1 promoter polymorphisms is of uncertain prognostic value.
Related Concept Videos
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Principles of Pharmacogenetics: Types of Genetic Variants
Pharmacogenomics: Identification of New Drug Targets