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目的 从基因水平探讨食管鳞癌HLA DRB1 , DQB1等位基因的遗传易感性 ,以阐述其免疫遗传学特征。方法 运用序列特异性引物聚合酶链反应技术 ,检测无亲缘关系湖北汉族健康人 1 36例、食管鳞癌患者 42例的HLA DRB1 , DQB1等位基因。结果 湖北汉族人食管鳞癌患者与正常人比较 ,HLA DRB1 0 90 1等位基因分布频率显著增高 (0 .2 50 0比 0 .1 397,P =0 .0 2 8,OR =2 .0 53 ,病因分数 =0 .1 2 82 ) ,HLA DQB1 0 30 1基因分布频率显著增高 (0 .2 976比 0 .1 875 ,P =0 .0 4 6 ,OR =1 .835 ,病因分数 =0 .1 35 4)。两者间其余HLA DRB1、 DQB1等位基因分布频率差异均无显著性。结论 HLA DRB1 0 90 1及 DQB1 0 30 1等位基因均与食管鳞癌正关联 ,为其易感基因。该两等位基因测序结果与其基因库第 2外显子序列吻合。
Objective To investigate the genetic susceptibility of HLA DRB1 and DQB1 alleles in esophageal squamous cell carcinoma from the genetic level to elucidate the immunological genetics. Methods HLA - DRB1 and DQB1 alleles of unrelated healthy subjects in Hubei Han population and 42 patients with esophageal squamous cell carcinoma were detected by sequence - specific polymerase chain reaction (PCR). Results The distribution of HLA DRB1 0 90 1 alleles in patients with esophageal squamous cell carcinoma of Han nationality in Hubei Province was significantly higher than that of normal controls (0.502-0.1397, P = 0.028, OR = 2.0 53, etiological score = 0.1282). The frequency of HLA DQB1 0301 gene distribution was significantly higher (0.2976 vs 0.1875, P = 0.046, OR = 1.385, etiological score = 0 .1 35 4). There was no significant difference in the frequencies of other HLA DRB1 and DQB1 alleles between the two groups. Conclusion HLA DRB1 0 90 1 and DQB1 0 30 1 alleles are positively correlated with esophageal squamous cell carcinoma and are susceptible genes. The results of the two alleles were in good agreement with the second exon of the gene bank.