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目的:探讨细胞毒性T淋巴细胞相关抗原-4(CTLA-4)+49 A>G位点多态性与结直肠癌发生的相关性,为早期预测结直肠癌的发生提供临床参考依据。方法:选取结直肠癌病例231例未实验组和正常健康体检者325例为对照组,取其空腹外周静脉血提取DNA后,采用聚合酶链式反应(PCR)技术对CTLA-4基因第1外显子区+49位点DNA进行扩增,产物用限制性片段长度多态性(RFLP)方法检测CTLA-4第1外显子区+49A>G位点的多态性,比较两组杂合子AG和纯合子AA、GG基因型发生的频率、A等位基因与G等位基因的分布,分析CTLA-4+49 A>G位点多态性与结直肠癌发生的相关性。结果:两组间CTLA-4基因外显子1区+49A>G位点杂合子AG和纯合子AA、GG基因型发生的频率以及A等位基因与G等位基因的分布比较差异均无统计学意义(P>0.05)。结论:CTLA-4基因外显子1区+49 A>G基因多态性与我省汉族人群结直肠癌的发病无显著相关性。
Objective: To investigate the correlation between CTLA-4 +49 A> G polymorphism and the occurrence of colorectal cancer and to provide a clinical reference for the early prediction of colorectal cancer. Methods: Totally 231 colorectal cancer patients and 325 healthy volunteers were selected as the control group. DNA was extracted from peripheral venous blood of patients with fasting and colorectal cancer. Polymerase chain reaction (PCR) Exon region +49 locus DNA amplification, the product of restriction fragment length polymorphism (RFLP) detection of CTLA-4 exon 1 + 49A> G loci polymorphism, compared two groups The frequencies of heterozygous AG, homozygous AA and GG genotypes, the distribution of A allele and G allele were analyzed. The correlation between CTLA-4 + 49 A> G polymorphism and colorectal carcinogenesis was analyzed. Results: There was no significant difference in the frequencies of heterozygous AG, homozygous AA and GG genotypes in the exon 1 + 49A> G of CTLA-4 gene and the distribution of the A and G alleles between the two groups Statistical significance (P> 0.05). Conclusion: The polymorphism of +49 A> G gene in exon 1 of CTLA-4 gene has no significant correlation with the incidence of colorectal cancer in Han population in our province.