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目的:分析肿瘤坏死因子基因多态性分布与中国西南地区汉族人群鼻咽癌易感性的关系。方法:选择2000-10/2005-09在华西医科大学第一附属医院就诊的100例鼻咽癌患者为鼻咽癌组,均经过病理科活检确诊,其中包括未治疗44例,放疗后37例,放疗加化疗后19例,选择100名同期入院健康体检者为对照组。所有受试对象为中国西南地区汉族人,均对检测项目知情同意。采用聚合酶链反应-限制性片段长度多态性的方法检测100例中国西南地区汉族鼻咽癌患者和100名健康对照者肿瘤坏死因子α基因启动子区-308位点及肿瘤坏死因子β基因第一内含子252位点的等位基因以及基因型频率,分析两位点多态性与鼻咽癌遗传易感性的关系。结果:鼻咽癌组患者肿瘤坏死因子β(+252)位点G/A杂合子基因型频率显著高于对照组(57%,29%,P<0.01),野生型(G/G基因型)频率低于健康对照组(23%,51%,P<0.01),等位基因A的频率高于健康对照组(48.5%,13%,P<0.01);肿瘤坏死因子α(-308)位点基因型以及等位基因频率与对照组相比较无统计学差异。结论:本实验人群中未发现肿瘤坏死因子α(-308)位点多态性与鼻咽癌易感性无关;肿瘤坏死因子β(+252)位点基因多态性与鼻咽癌具有相关性,A等位基因可能是鼻咽癌的遗传易感基因,G/A杂合子基因型个体较易患鼻咽癌。
Objective: To analyze the relationship between the distribution of tumor necrosis factor gene polymorphisms and susceptibility to nasopharyngeal carcinoma in Han population of southwest China. METHODS: One hundred patients with nasopharyngeal carcinoma who were treated in the First Affiliated Hospital of Huaxi Medical University from 2000-10 / 2005-09 were selected and confirmed by pathology biopsy, including 44 cases without treatment and 37 cases after radiotherapy , Radiotherapy and chemotherapy after 19 cases, select 100 patients admitted to the same period as a healthy control group. All subjects were Han Chinese in Southwest China, both informed consent of the test items. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to detect promoter region -308 and tumor necrosis factor-β (TNF-α) gene in 100 cases of NPC and 100 healthy controls in Han nationality in Southwest China. The first intron 252 alleles and genotype frequency, analysis of two-locus polymorphism and genetic susceptibility to nasopharyngeal carcinoma. Results: The genotype frequencies of G / A heterozygote at tumor necrosis factor β (+252) site in nasopharyngeal carcinoma group were significantly higher than those in control group (57%, 29%, P <0.01) ) Was lower than that of healthy controls (23%, 51%, P <0.01). The frequency of allele A was higher than that of healthy controls (48.5%, 13%, P <0.01) Locus genotypes and allele frequencies were not significantly different from those in the control group. Conclusion: No polymorphism of tumor necrosis factor α (-308) locus was found in this population of patients, which was not associated with the susceptibility to NPC. The polymorphism of tumor necrosis factor β (+252) locus was associated with NPC , A allele may be a genetic predisposition to nasopharyngeal carcinoma, G / A heterozygous individuals are more susceptible to nasopharyngeal carcinoma.