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目的:探讨胃癌组织中17号染色体q25.3区单核甘酸多态性位点rs34040607与人胃癌的相关性。并初步探索其可能的生物学机制和效应。方法:应用Taqman探针实时定量PCR分型法,检测50例胃癌患者及对照非胃癌患者基因组中此位点的多态性。应用RT-PCR法,检测胃癌组织中此位点转录产物及转录方向。应用最小自由能方法预测此位点突变对非编码RNA发夹结构形成的影响。结果:中国人胃癌患者中此位点多态性存在高变异。与正常对照人群存在显著差异。该位点存在转录活性,且转录方向为单向,由着丝粒向端粒方向转录。该点突变导致转录的非编码RNA发夹结构改变。结论:SNP位点rs34040607变异可以作为胃癌易感性预测的靶点,在未来的基因筛查中可作为一个重要候选位点,对该位点的转录及对RNA发夹结构的改变揭示了其发挥功能的一个可能的机制。
Objective: To investigate the association between SNP rs34040607 at q25.3 region of human chromosome 17 and gastric cancer in gastric cancer. And preliminary exploration of its possible biological mechanism and effect. Methods: Taqman probe real-time quantitative PCR method was used to detect the polymorphism of this locus in the genomes of 50 gastric cancer patients and control non-gastric cancer patients. RT-PCR method was used to detect the transcripts and transcriptional direction of this site in gastric cancer tissue. The minimum free energy method was used to predict the effect of this site mutation on the formation of non-coding RNA hairpin. Results: There was a high variation in the polymorphism of this locus in Chinese patients with gastric cancer. There are significant differences with the normal control population. This site is transcriptionally active and transcribed in the unidirectional direction from centromere to telomere. This point mutation causes the transcriptional non-coding RNA hairpin structure to change. CONCLUSIONS: SNP SNP rs34040607 can be used as a target for gastric cancer susceptibility prediction and may serve as an important candidate for future genetic screening. The transcription of this site and the change of RNA hairpin structure reveal its role A possible mechanism for functionality.