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  

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

作　　者：杜智卓[1] 凌婧[1] 吕慧[1] 胡绍燕[1] 柴忆欢[1] 

机构地区：[1]苏州大学附属儿童医院血液科215000

出　　处：《白血病．淋巴瘤》2016年第11期655-658,共4页Journal of Leukemia & Lymphoma

基　　金：江苏省科技计划（BK2014285）

摘　　要：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。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.

关 键 词：白血病 淋巴细胞 急性 多药耐药基因 基因多态性 无事件生存 

分 类 号：R733.71[医药卫生—肿瘤]