Abstract
Objective To study the frequency distribution patterns of gene polymorphism of multidrug resistance gene MDR1 in children with acute lymphoblastic leukemia(ALL), and their relationship with long-time survival. Methods A case-control study was carried out to compare the distribution of genotype and genetic frequency of MDR1 C3435T, C1236T and G2677T/A in 176 children with ALL by single nucleotide polymorphisms-shot (SNP-shot) method. Results MDR1 C3435T C/C, C/T, T/T took 67, 94 and 15 cases respectively; MDR1 C1236T C/C, C/T, T/T took 23, 82 and 71 cases respectively; G2677T/A G/T, T/T, T/A, G/G, G/A and A/A took 66, 17, 28, 37, 24 and 4 cases respectively. The overall survival rate of 176 children in this group was 77.3 % (136/176). The 5-year event-free survival (EFS) rates in children with MDR1 C3435T C/C, C/T and T/T were 79.57 %, 83.33 % and 33.33 % respectively. The EFS rate in children with T/T genotype was lower than those in C/C and C/T genotypes(χ2=15.301, P=0.002). The 5-year EFS rates in patients with MDR1 C1236T C/C, C/T and T/T were 52 %, 81.71 % and 71.93 % respectively. The EFS rate in patients with C/C genotype was lower than those in C/T and T/T genotypes (χ2=17.800, P=0.001). Conclusions The gene polymorphism of MDR1 is related to the EFS of children with ALL. The survival rates in children with MDR1 C1236T C/C and C3435T T/T genotypes are lower than those in other genotypes. Key words: Leukemia, lymphocyte, acute; Multidrug resistance gene; Gene polymorphism; Event-free survival
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