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目的探讨hMLH3基因2531位点多态性及环境因素与新疆哈萨克族食管癌家族式高发率的关系。方法通过检测86例新疆哈萨克族食管癌家族成员及82例对照家族成员外周血hMLH3基因的多态性,并通过对环境危险因素进行现场问卷调查,研究hMLH3基因多态性和环境因素在新疆哈萨克族食管癌家族食管癌发病中所起的作用。结果新疆哈萨克族食管癌家族与对照家族hMLH3基因2531位点不同基因型的分布频率差异有统计意义(P=0.018);食管癌患者与非食管癌患者hMLH3基因2531位点不同基因型的分布频率差异无统计意义(P=0.653);吸烟、饮酒、辛辣食物、腌熏食物、饮水情况、摄入新鲜蔬菜水果等环境因素均未显示与hMLH3基因2531位点基因多态性有相关性。结论 hMLH3基因2531位点多态性与新疆哈萨克族食管癌家族的聚集性相关,未发现hMLH3基因2531位点多态性与新疆哈萨克族食管癌的发病及环境因素有关。
Objective To investigate the relationship between polymorphism of hMLH3 gene 2531 locus and the familial incidence of esophageal cancer in Kazak of Xinjiang. Methods The polymorphism of hMLH3 gene in peripheral blood of 86 Kazakh esophageal cancer family members and 82 control family members was detected. Through field survey of environmental risk factors, the genetic polymorphism of hMLH3 gene and environmental factors in Xinjiang Kazakhs Family esophageal cancer family Esophageal cancer plays a role. Results There was a significant difference in the distribution frequency of different genotypes of hMLH3 gene at position 2531 between Xinjiang Kazak esophageal cancer family and control family (P = 0.018). The frequency of different genotypes of hMLH3 gene 2531 locus in esophageal cancer patients and non-esophageal cancer patients There was no significant difference between the two groups (P = 0.653). Environmental factors such as smoking, drinking, spicy food, smoked food, drinking water and fresh vegetables and fruits did not show any association with hMLH3 gene polymorphism. Conclusion Polymorphism at 2531 locus of hMLH3 gene is associated with the clustering of Kazakh Kazakh esophageal cancer families. No association of 2551 locus polymorphism of hMLH3 gene with the incidence and environmental factors of Kazakh esophageal cancer in Xinjiang was found.