多药耐药基因多态性与儿童急性淋巴细胞白血病长期生存的相关性

目的：探讨多药耐药基因MDR1基因多态性在儿童急性淋巴细胞白血病（ALL）中的发生情况，及其与患儿长期生存的相关性。方法采用多重单碱基延伸单核苷酸多态性基因分型技术检测176例ALL患儿MDR1 C3435T、C1236T、G2677T／A位点的基因型分布特点，分析其与患儿长期（5年）生存的相关性。结果MDR1 C3435T中C／C、C／T、T／T基因型分别有67、94、15例；MDR1 C1236T中C／C、C／T、T／T基因型分别有23、82、71例；G2677T／A中G／T、T／T、T／A、G／G、G／A、A／A基因型分别有66、17、28、37、24、4例。本组176例患儿总体生存率为77.3%（136／176）。MDR1 C3435T中C／C、C／T、T／T基因型患儿的5年无事件生存（EFS）率分别为79.57%、83.33%、33.33%，其中携带T／T基因型患儿的5年EFS率低于携带C／C和C／T基因型的患儿（χ2＝15.301，P＝0.002）。 MDR1 C1236T中C／C、C／T、T／T基因型患儿的5年EFS分别为52.00%、81.71%、71.93%，其中携带C／C基因型患儿的5年EFS率低于携带C／T和T／T基因型的患儿（χ2＝17.800，P＝0.001）。结论 MDR1基因多态性与儿童ALL的EFS相关，携带MDR1 C3435T中T／T、MDR1 C1236T中C／C基因型的患儿长期生存率较低。

The relationship between MDR1 gene polymorphism and long-time survival in children with acute lymphoblastic leukemia

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.