【摘要】：目的 TIN2是端粒保護(hù)蛋白復(fù)合體中的一員,其在胃癌組織中表達(dá)異常。本研究檢測(cè)胃癌組織中TIN2基因的突變位點(diǎn),探索其在胃癌發(fā)生發(fā)展中所起的作用。方法選取南華大學(xué)附屬第二醫(yī)院2012-05-03-2013-05-14收治的胃癌患者組織標(biāo)本50例,均為胃腺癌。提取50例胃癌組織標(biāo)本中的DNA,進(jìn)行PCR擴(kuò)增,對(duì)TIN2基因的6號(hào)外顯子進(jìn)行測(cè)序,通過序列分析,找到TIN2基因的突變位點(diǎn),并對(duì)其突變位點(diǎn)進(jìn)行生物信息學(xué)的分析。結(jié)果在22%(11例)的胃癌標(biāo)本中發(fā)現(xiàn)了TIN2基因6號(hào)外顯子中兩個(gè)基因突變位點(diǎn),其中6%(3例)胃癌標(biāo)本中TIN2基因6號(hào)外顯子第90位堿基C/C突變?yōu)镃/T,16%(8例)胃癌標(biāo)本中TIN2基因6號(hào)外顯子第241位堿基G/G突變?yōu)锳/A。通過生物信息學(xué)分析,發(fā)現(xiàn)兩者對(duì)TIN2蛋白質(zhì)的功能皆有影響,但TIN2基因6號(hào)外顯子中第90位堿基C/C突變?yōu)镃/T比TIN2基因6號(hào)外顯子中第241位堿基G/G突變?yōu)锳/A對(duì)蛋白質(zhì)功能的影響更大,即這個(gè)突變很有可能是有害的,發(fā)現(xiàn)TIN2基因的突變與胃癌患者的性別、年齡、分化程度和臨床分期無關(guān),P0.05。結(jié)論發(fā)現(xiàn)了TIN2基因6號(hào)外顯子中的兩個(gè)突變位點(diǎn),其對(duì)蛋白質(zhì)的功能皆有影響。TIN2基因6號(hào)外顯子中第90位堿基C/C突變?yōu)镃/T為新發(fā)現(xiàn)的突變類型,其對(duì)蛋白質(zhì)的功能影響更大。TIN2基因的突變可能在胃癌的發(fā)生發(fā)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.
【作者單位】： 南華大學(xué)腫瘤研究所;南華大學(xué)附屬第二醫(yī)院病理科;南華大學(xué)附屬第一醫(yī)院病理科;
【基金】：國家自然科學(xué)基金(81401960)
【分類號(hào)】：R735.2
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本文編號(hào)：2240091