DDX39基因在肝癌组织的表达及其单核苷酸多态性与肝癌遗传易感性的研究

发布时间：2018-04-29 18:09

本文选题：肝细胞癌 + DDX39基因　；参考：《广西医科大学》2017年硕士论文

【摘要】：目的:探讨DDX39基因在原发性肝细胞癌(Hepatocellular carcinoma HCC)组织中的蛋白表达水平及其DDX39基因rs12461754位点单核苷酸多态性与原发性肝细胞癌遗传易感性相关性。方法:采用S-P免疫组织化学染色方法测定DDX39蛋白在50例肝癌组织和50例癌旁组织中的表达水平;以广西扶绥20个肝癌高发家系(77例)和10个对照家系(35例)为研究对象,DDX39基因rs12461754位点在两组中的基因型和等位基因频率采用基质辅助激光解析电离飞行时间质谱技术方法来检测。结果:免疫组织化学染色结果提示,原发性肝细胞癌组织中DDX39蛋白表达水平为9.3±0.86307,显著高于原发性肝细胞癌癌旁组织6.28±0.85809。在对照家系人群中,DDX39基因rs12461754位点携带A等位基因型的个体发生原发性肝细胞癌的风险是G等位基因型个体的0.407倍(95%CI 为0.125～1.326),P=0.136,差异无统计学意义(P0.05)。在肝癌高发家系非肝癌患者组人群中,携带A等位基因型的个体发生原发性肝细胞癌的风险分别是G等位基因型个体的0.981倍(95%CI为0.298～3.326),P=0.976,差异无统计学意义(P0.05)。DDX39基因rs12461754位点基因型GG、AG、AA在肝癌高发家系肝癌患者人群、肝癌家系非肝癌患者人群、对照家系人群三组间相互比较,差异无统计学意义(P0.05)。结论:1、DDX39基因在原发性肝细胞癌组织中过表达2、DDX39基因rs12461754位点各组基因型的期望值与观察值吻合度较好,符合Hardy-Weinberg遗传平衡定律。3、DDX39基因rs12461754位点单核苷酸多态性与肝癌遗传易感性不相关。
[Abstract]:Objective: to investigate the expression of DDX39 gene in hepatocellular carcinoma (HCC) tissues and the association between the single nucleotide polymorphism (SNP) of DDX39 gene rs12461754 site and the genetic susceptibility of HCC. Methods: S-P immunohistochemical staining was used to detect the expression of DDX39 protein in 50 cases of HCC and 50 cases of paracancerous tissues. The genotypes and allelic frequencies of the rs12461754 locus of the DDX39 gene in 20 families with high incidence of liver cancer in Fusui, Guangxi, were studied by matrix assisted laser desorption ionization time of flight mass spectrometry (TF-MS). Technical methods to detect. Results: the expression level of DDX39 protein in primary hepatocellular carcinoma was 9.3 卤0.86307, which was significantly higher than that in paracancerous tissue of primary hepatocellular carcinoma (6.28 卤0.85809). The risk of developing primary hepatocellular carcinoma in individuals with A allele at the rs12461754 locus of dddx39 gene was 0.407 times higher than that in G allele individuals, and the CI was 0.125% 1.326% (P = 0.136). There was no significant difference in the risk of primary hepatocellular carcinoma (P0.05). Among non-HCC patients in families with high incidence of liver cancer, The risk of developing primary hepatocellular carcinoma in individuals with A allele was 0.981 times than that in G allele. The CI was 0.298 ~ 3.326% P0. 976. There was no significant difference in the genotype of rs12461754 locus of P0.05. DDX39 gene. There was no significant difference among the three groups in non-HCC patients and control families (P 0.05). Conclusion the expected values of the genotypes of the rs12461754 loci of the rs12461754 locus of the 2 D DDX39 gene expressed in primary hepatocellular carcinoma (HCC) are in good agreement with the observed values. The single nucleotide polymorphisms at the rs12461754 locus of DDX39 gene were not correlated with the genetic susceptibility of hepatocellular carcinoma (HCC) according to the law of genetic balance of Hardy-Weinberg.
【学位授予单位】：广西医科大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R735.7

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