【摘要】 目的探讨人核黄素转运蛋白RFT2基因中1172C>T位点单核苷酸多态性(SNP)与食管鳞癌(ESCC)遗传易感性的关系。方法磁珠法提取全血基因组DNA,包括240例食管癌患者和198例健康对照人群。PCR扩增目的片段后直接测序,分析RFT2基因的SNP1172C>T位点的基因型频率及其与食管癌的易感性关系。结果食管癌患者与健康对照人群RFT2 SNP1172C>T的基因型频率有显著差异(χ2=13.10,P=0.001)。分析1172C>T位点显示,与C/C相比,C/T和T/T基因型降低食管癌发生率(OR=0.66,95%CI:0.41~1.05)。结论 RFT2基因功能区SNP1172C>T与食管癌的遗传易感性相关。更多还原

【Abstract】 Objective To explore the association of RFT2 functional SNP1172C>T and hereditary susceptibility to esophageal squamous cell carcinoma(ESCC). Methods Whole blood genomic DNA were extracted from 240 ESCC patients and 198 healthy people by paramagnetic particle method. RFT2 SNP 1172C>T was determined by sequencing after DNA purification and amplification. The frequency and its correlation with susceptibility to ESCC were then analyzed. Results Overall genotype frequencies of the RFT2 SNP1172C>T in ESCC patients were significantly different from those in healthy controls(χ2=13.10, P=0.001) For 1172C>T, C/T and T/T genotype did not show a relationship with the risk of ESCC, compared with C/C genotype(OR=0.66, 95%CI:0.41-1.05). Conclusion There is a close relationship between SNP1172C>T in RFT2 and hereditary susceptibility to ESCC.更多还原