胃癌组织TIN2基因突变研究
发布时间：2018-09-12 20:07
【摘要】：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,P0.05。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。
[Abstract]:Objective TIN2 is a member of telomere-protective protein complex (TPC) and is abnormally expressed in gastric cancer tissues. The mutation site of TIN2 gene in gastric cancer tissues was detected to explore its role in the development of gastric cancer. DNA was extracted from 50 gastric cancer specimens and sequenced at exon 6 of TIN2 gene by PCR. The mutation site of TIN2 gene was found by sequence analysis and bioinformatics analysis. Results Two genes in exon 6 of TIN2 gene were found in 22% (11 cases) of gastric cancer specimens. The mutation site was found in 6% (3 cases) of gastric cancer specimens. The 90 base C/C of exon 6 of TIN2 gene mutated into C/T, and the 241 base G/G of exon 6 of TIN2 gene mutated into A/A in 8 cases of gastric cancer specimens. The mutation of C/T in exon 6 of TIN2 gene had more effect on protein function than that of A/A in exon 241 of exon 6 of TIN2 gene. It was found that the mutation of TIN2 gene was not related to sex, age, degree of differentiation and clinical stage of gastric cancer patients, P 0.05. Conclusion Two mutations in exon 6 of TIN2 gene were found. The mutation of the 90th base C/C in exon 6 of TIN2 gene into C/T is a new type of mutation, which has a greater impact on the function of protein. The mutation of TIN2 gene may play a role in the development of gastric cancer.
【作者单位】： 南华大学肿瘤研究所;南华大学附属第二医院病理科;南华大学附属第一医院病理科;
【基金】：国家自然科学基金(81401960)
【分类号】：R735.2
，
本文编号：2240091
[Abstract]:Objective TIN2 is a member of telomere-protective protein complex (TPC) and is abnormally expressed in gastric cancer tissues. The mutation site of TIN2 gene in gastric cancer tissues was detected to explore its role in the development of gastric cancer. DNA was extracted from 50 gastric cancer specimens and sequenced at exon 6 of TIN2 gene by PCR. The mutation site of TIN2 gene was found by sequence analysis and bioinformatics analysis. Results Two genes in exon 6 of TIN2 gene were found in 22% (11 cases) of gastric cancer specimens. The mutation site was found in 6% (3 cases) of gastric cancer specimens. The 90 base C/C of exon 6 of TIN2 gene mutated into C/T, and the 241 base G/G of exon 6 of TIN2 gene mutated into A/A in 8 cases of gastric cancer specimens. The mutation of C/T in exon 6 of TIN2 gene had more effect on protein function than that of A/A in exon 241 of exon 6 of TIN2 gene. It was found that the mutation of TIN2 gene was not related to sex, age, degree of differentiation and clinical stage of gastric cancer patients, P 0.05. Conclusion Two mutations in exon 6 of TIN2 gene were found. The mutation of the 90th base C/C in exon 6 of TIN2 gene into C/T is a new type of mutation, which has a greater impact on the function of protein. The mutation of TIN2 gene may play a role in the development of gastric cancer.
【作者单位】： 南华大学肿瘤研究所;南华大学附属第二医院病理科;南华大学附属第一医院病理科;
【基金】：国家自然科学基金(81401960)
【分类号】：R735.2
，
本文编号：2240091
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