Single nucleotide polymorphisms of multidrug resistance gene 1 (MDR1) and risk of chronic myeloid leukemia

Tumor Biology ◽  
2014 ◽  
Vol 35 (11) ◽  
pp. 10969-10975 ◽  
Author(s):  
Kassogue Yaya ◽  
Dehbi Hind ◽  
Quachouh Meryem ◽  
Quessar Asma ◽  
Benchekroun Said ◽  
...  
Parasitology ◽  
1999 ◽  
Vol 119 (1) ◽  
pp. 1-6 ◽  
Author(s):  
I. S. ADAGU ◽  
D. C. WARHURST

An allele-specific, one tube PCR for the sensitive and reliable detection of point mutations in Plasmodium falciparum DNA is described. Design of specific internal primers and optimization of the PCR is simple, and the procedure is robust and sensitive. Single nucleotide polymorphisms at codons 184, 1034, 1042 and 1246 of the P. falciparum multidrug resistance gene Pfmdr1, were examined in 6 laboratory isolates, to validate the technique.


Blood ◽  
2008 ◽  
Vol 112 (5) ◽  
pp. 2024-2027 ◽  
Author(s):  
Stéphanie Dulucq ◽  
Stéphane Bouchet ◽  
Béatrice Turcq ◽  
Eric Lippert ◽  
Gabriel Etienne ◽  
...  

Abstract Despite the excellent efficacy of imatinib in chronic myeloid leukemia (CML), the response in patients is heterogeneous, which may in part be caused by pharmacogenetic variability. Imatinib has been reported to be a substrate of the P-glycoprotein pump. In the current study, we focused on the ABCB1 (MDR1) genotype. We analyzed the 3 most relevant single nucleotide polymorphisms of MDR1 in 90 CML patients treated with imatinib. Among the patients homozygous for allele 1236T, 85% achieved a major molecular response versus 47.7% for the other genotypes (P = .003). For the 2677G>T/A polymorphism, the presence of G allele was associated with worse response (77.8%, TT/TA; vs 47.1%, GG/GA/GT; P = .018). Patients with 1236TT genotype had higher imatinib concentrations. One of the haplotypes (1236C-2677G-3435C) was statistically linked to less frequent major molecular response (70% vs 44.6%; P = .021). Hence, we demonstrated the usefulness of these single nucleotide polymorphisms in the identification of CML who may or may not respond optimally to imatinib.


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