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目的 TIN2是端粒保护蛋白复合体中的一员,其在胃癌组织中表达异常。本研究检测胃癌组织中TIN2基因的突变位点,探索其在胃癌发生发展中所起的作用。方法选取南华大学附属第二医院2012-05-03-2013-05-14收治的胃癌患者组织标本50例,均为胃腺癌。提取50例胃癌组织标本中的DNA,进行PCR扩增,对TIN2基因的6号外显子进行测序,通过序列分析,找到TIN2基因的突变位点,并对其突变位点进行生物信息学的分析。结果在22%(11例)的胃癌标本中发现了TIN2基因6号外显子中两个基因突变位点,其中6%(3例)胃癌标本中TIN2基因6号外显子第90位碱基C/C突变为C/T,16%(8例)胃癌标本中TIN2基因6号外显子第241位碱基G/G突变为A/A。通过生物信息学分析,发现两者对TIN2蛋白质的功能皆有影响,但TIN2基因6号外显子中第90位碱基C/C突变为C/T比TIN2基因6号外显子中第241位碱基G/G突变为A/A对蛋白质功能的影响更大,即这个突变很有可能是有害的,发现TIN2基因的突变与胃癌患者的性别、年龄、分化程度和临床分期无关,P>0.05。结论发现了TIN2基因6号外显子中的两个突变位点,其对蛋白质的功能皆有影响。TIN2基因6号外显子中第90位碱基C/C突变为C/T为新发现的突变类型,其对蛋白质的功能影响更大。TIN2基因的突变可能在胃癌的发生发展中起一定的作用。
Purpose TIN2 is a member of the telomere protective protein complex that is abnormally expressed in gastric cancer. This study detected TIN2 gene mutation sites in gastric cancer to explore its role in the occurrence and development of gastric cancer. Methods The Second Affiliated Hospital of Nanhua University 2012-05-03-2013-05-14 Tissue specimens of gastric cancer patients admitted to 50 cases, are gastric adenocarcinoma. The DNA of 50 cases of gastric cancer tissues was extracted and amplified by PCR. The 6th exon of TIN2 gene was sequenced. The sequence of TIN2 gene was found to be mutated and the site of mutation was analyzed by bioinformatics . Results Two loci were found in exon 6 of TIN2 gene in 22% (11 cases) of gastric cancer specimens. Among them, 6% (3 cases) of TIN2 gene exon 6 of 90th base C / C to C / T, the G / G mutation at base 241 of exon 6 of TIN2 gene was A / A in 16% (8 cases) gastric cancer specimens. Bioinformatics analysis showed that both of them had effects on the function of TIN2 protein. However, the 90th base C / C mutation in exon 6 of TIN2 gene was changed to C / T to 241nd in exon 6 of TIN2 gene The mutation of base G / G to A / A has a greater impact on the function of the protein, that is, the mutation is likely to be harmful. The mutation of TIN2 gene was not associated with the gender, age, differentiation and clinical stage of gastric cancer, P> 0.05. Conclusion Two mutations in exon 6 of TIN2 gene were found, which all have an impact on the function of the protein. The mutation of base C / C at position 90 in TIN2 gene exon 6 to C / T is a newly discovered type of mutation that has a greater impact on the function of the protein. TIN2 gene mutation may play a role in the occurrence and development of gastric cancer.