| 曾孔鑫，石巍,胡光胜.胃癌组织中TGFBR1的基因突变研究.[J].中南医学科学杂志.,2014,42(2):134-138. |
| 胃癌组织中TGFBR1的基因突变研究 |
| Study of Mutations of TGFBR1 Gene in Gastric Cancer |
| 投稿时间：2013-11-05 |
| DOI： |
| 中文关键词: 胃癌 TGFBR1 基因突变 |
| 英文关键词:gastric cancer TGFBR1 gene mutations |
| 基金项目:衡阳市科技计划项目（2011KJ34）. |
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| 中文摘要: |
| 目的揭示胃癌组织的转化生长因子-β受体1（TGFBR1）的突变位点，探索其在胃癌发生发展过程中的作用。方法将20例胃癌组织标本进行DNA提取，PCR扩增，应用Sanger双脱氧测序法进行TGFBR1全部外显子的基因测序，再对序列进行分析，找到TGFBR1的基因突变位点。结果在6例标本中得到了TGFBR1外显子9的7个基因突变位点(c.1470 G>A;c.1491 G>A;c.1493 G>A;c.1543 G>A;c.1624 G>A;c.1675 G>A;c.1684 G>A)，均是第一次发现和报道。TGFBR1的基因突变与胃癌患者的年龄、性别、分化程度、淋巴结转移及分期均无关（P＞0.05）。结论本实验发现7个未报道的TGFBR1基因突变位点，其中3个错义突变（c.1470G>A;c.1491 G>A;c.1493 G>A）可能是胃癌患者的致病原因之一，对揭示TGFBR1与胃癌的确切关系有重要意义。 |
| 英文摘要: |
| ObjectiveTo reveal the mutations of TGFBR1 gene of gastric cancer tissue,explore their roles in the occurrence and development of gastric cancer.MethodsTwenty cases of gastric cancer tissue samples were collected for DNA extraction and PCR amplification,gene sequencing of all exons of TGFBR1 was conducted applying Sanger dideoxy sequencing method,and then the sequences were analyzed to find the mutations of TGFBR1 gene.ResultsIn this study,7 gene mutation sites of TGFBR1 exon 9 were obtained from six cases of specimens，which were first discovered and reported.TGFBR1 gene mutations were unrelated to the age,sex,degree of differentiation,lymph node metastasis and staging of patients with gastric cancer.ConclusionThe experiment finds 7 unreported TGFBR1 gene mutation sites,including 3 missense mutations that may be one cause of the gastric cancer,which has significant meaning in revealing the exact relationship between TGFBR1 and gastric cancer,and need further research as well. |
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