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单核苷酸多态性SNP(rs34040607)与中国人胃癌相关性的研究 被引量:1

Study on the Relationship between Single Nucleotide Polymorphisms rs34040607 and Gastric Cancer in Chinese
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摘要 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 relationship between the single nucleotide polymorphisms (SNP) rs34040607 that locates in the chromosome 17q25.3 and Chinese Gastric cancer. Thenwe sought to preliminarily unveil the possible mechanism by which it fimc- tions. Methods: Genomic DNAs fi'om 50 patients with or without Gastric cancer were resolved by real-time PCR using Taqman MGB probes for rs34040607. The transcription product containing rs34040607 was detected by RT-PCR, and the direction of the transcription product was also determined by RT-PCR. The stem-loop of the RNA was plotted according to the optimal free energy change. Results: The rs34040607 insertion mutation exhibited high level of prevalence in Gastric cancer, which was significantly different to that of nor- mal people. The transcription of the region around rs34040607 can be detected, and the transcriptional direction was from centromere to- wards telomere. The insertion of single Cytidine led to a change in the RNA stem-loop structure. Conclusion: The presence of the rs34040607 insertion may serve as a genomic marker for susceptibility of Gastric cancer, and the transcription of that region and the structural change in the RNA stem-loop provide insights into the mechanism by which it functions.
出处 《现代生物医学进展》 CAS 2013年第27期5209-5211,5225,共4页 Progress in Modern Biomedicine
基金 湖北省黄石市医药卫生科技资助项目(2010058) 国家自然科学基金面上项目(81172512)
关键词 单核甘酸多态性 SNP rs34040607 胃癌 RNA茎环 Single nucleotide polymorphisms SNP rs34040607 Gastric cancer RNA stem-loop
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