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目的:研究Toll样受体4(ToLL like receptor 4,TLR4)基因-299位点A/G多态性在中国浙江汉族人群中的分布,探讨其与溃疡性结肠炎(ulcerative colitis,UC)及大肠腺癌的相关性,旨在阐明疾病的遗传易感性。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RELP)方法,检测68例UC患者,114例大肠腺癌(46例结肠癌,68例直肠癌)与152例正常对照TLR4基因Asp299Gly基因型及等位基因分布,并分析该基因多态性与UC及大肠腺癌之间的关系。结果:(1)在UC组、大肠腺癌组和正常对照组中均未发现TLR4基因Asp299Gly位点的突变,其基因型频率及等位基因频率及携带者频率总体分布无显著性差异。(2)中国汉族人与日本人均未发现TLR4基因Asp299Gly位点的突变,且等位基因频率及基因型频率的分布无明显差异,而与荷兰人(8.93%)、德国人(5.6%)、英国人(6.23%)的突变频率相比存在明显差异性。亚洲人该等位基因频率及基因型频率分布较欧洲白种人显著减低。结论:TLR4基因Asp299Gly多态性与中国汉族人UC及大肠腺癌的遗传易感性无关,该等位基因频率及基因型频率在不同种族人群中的分布有显著性差异。
AIM: To investigate the distribution of the -299 A / G polymorphism of Toll - like receptor 4 (TLR4) gene in Chinese Han population of Zhejiang Province, China and its relationship with ulcerative colitis (UC) and The relevance of colorectal adenocarcinoma aims to elucidate the genetic susceptibility of the disease. Methods: Sixty eight UC patients, 114 colorectal adenocarcinoma (46 colon cancer, 68 rectal cancer) and 152 normal control TLR4 were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RELP) Gene Asp299Gly genotype and allele distribution, and analyze the relationship between the gene polymorphism and UC and colorectal adenocarcinoma. Results: (1) No mutations in Asp299Gly site of TLR4 gene were found in UC group, colorectal adenocarcinoma group and normal control group. There was no significant difference in genotype frequency, allele frequency and carrier frequency distribution. (2) No mutation in Asp299Gly of TLR4 gene was found in Han Chinese and Japanese in China. There was no significant difference in allele frequency and genotype distribution between Dutch Han (8.93%), German (5.6%), There was a significant difference in the frequency of mutations among British people (6.23%). Asia, the allele frequency and genotype frequency distribution significantly reduced compared with European Caucasians. CONCLUSION: The Asp299Gly polymorphism of TLR4 gene is not related to the genetic predisposition of UC and colorectal adenocarcinoma in Chinese Han population. The distribution of allele frequency and genotype frequency in different ethnic groups is significantly different.