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目的利用SNaPshot SNP分型技术检测儿童淋巴瘤患者肿瘤坏死因子α(TNF-α)基因-308 G/A位点及淋巴毒素(LTα)基因+252 A/G位点的单核苷酸多态性(SNP),探讨TNF基因多态性与儿童淋巴瘤临床特征及预后的关系。方法收集2004年7月-2011年7月在我院血液科确诊的儿童淋巴瘤患者血样,提取基因组DNA,用SNaPshot SNP分型技术检测TNF-α基因-308G/A位点及LTα基因+252 A/G位点的单核苷酸多态性,分析TNF-α/LTα基因多态性与淋巴瘤患儿的临床特征及预后的关系。结果 62例淋巴瘤患儿中,非霍奇淋巴瘤51例,霍奇金病11例,TNF-α-308位点与LTα+252位点基因存在遗传连锁不平衡现象。将含2个及以上TNF或LTα高产位点的基因型定义为高危型,少于2个高产位点的基因型定义为低危型。对56例随访治疗的淋巴瘤患儿以Kaplan-Meier方法进行生存分析,高危型组和低危型组5年无事件生存率(EFS)分别为47%、75%(Log-rank检验,P=0.045),差异有显著性;对51例非霍奇金淋巴瘤患儿分析,高危型组和低危型组的5年EFS分别为53.5%、71.4%(Log-rank检验,P=0.288),差异无显著性。结论 TNF-α-308位点和LTα+252位点多态性联合危险度分型可能与儿童淋巴瘤预后有关。
Objective To detect single nucleotide polymorphisms of tumor necrosis factor α (TNF-α) gene -308 G / A site and LTα gene +252 A / G site in children with lymphoma by SNaPshot SNP typing technique (SNP) to explore the relationship between TNF gene polymorphism and the clinical features and prognosis of children with lymphoma. Methods Blood samples of children with lymphoma confirmed by hematology in our hospital from July 2004 to July 2011 were collected and genomic DNA was extracted. SNP-SNP genotype -308G / A and LTα gene +252 A / G loci SNPs, and to analyze the relationship between TNF-α / LTα gene polymorphism and clinical features and prognosis in children with lymphoma. Results Among the 62 cases of lymphoma, there were 51 cases of non-Hodgkin’s lymphoma and 11 cases of Hodgkin’s disease. There was a genetic linkage disequilibrium between TNF-α-308 locus and LTα + 252 locus. Genotypes with two or more TNF or LTα high-yielding loci were defined as high-risk and genotypes with fewer than two high-yielding loci were defined as low-risk. Fifty-six children with lymphoma treated at follow-up were analyzed by Kaplan-Meier method. The 5-year event-free survival rates were 47% and 75% in high-risk and low-risk groups respectively (Log-rank test, P = 0.045). There was a significant difference between the two groups (P> 0.05). For 51 children with non-Hodgkin’s lymphoma, the 5-year EFS of high-risk group and low-risk group were 53.5% and 71.4% ), The difference was not significant. Conclusion The combination of TNF-α-308 locus and LTα + 252 polymorphism risk score may be related to the prognosis of children with lymphoma.