CAJ | 학술논문

目的探讨人T细胞因子4(hTCF-4)外显子3～9突变在微卫星不稳定散发性直肠癌中的意义.方法对102例散发性直肠癌患者进行微卫星标记遗传筛选.11例证实为高频率微卫星不稳定.对这11例以及来源于不同样本的微卫星稳定和正常组织病例各5例进行hTCF-4基因外显子3～9编码区测序分析.结果研究揭示几个新的突变和序列变异体.在外显子4,一个为导致氨基酸由Q131T改变为S132I的一个四位连续变化(391insA、392G＞A、393A＞G and 395delC),另一个为核苷酸缺失(395delC),这些改变分别存在于不同的高频率微卫星不稳定病例(5/10,50%和4/10,40%),而对照组缺乏.结论这些突变与高频率微卫星不稳定性散发性直肠癌患者高度相关.
목적 탐토인T세포인자4(hTCF-4)외현자3～9돌변재미위성불은정산발성직장암중적의의.방법 대102례산발성직장암환자진행미위성표기유전사선.11예증실위고빈솔미위성불은정.대저11례이급래원우불동양본적미위성은정화정상조직병례각5례진행hTCF-4기인외현자3～9편마구측서분석.결과 연구게시궤개신적돌변화서렬변이체.재외현자4,일개위도치안기산유Q131T개변위S132I적일개사위련속변화(391insA、392G＞A、393A＞G and 395delC),령일개위핵감산결실(395delC),저사개변분별존재우불동적고빈솔미위성불은정병례(5/10,50%화4/10,40%),이대조조결핍.결론 저사돌변여고빈솔미위성불은정성산발성직장암환자고도상관.
Objective To establish the role of human T cell transcription factor-4 (hTCF-4) mutation status associated with sporadic rectal cancer with microsatellite instability (MSI). Methods Geno-typing using microsatellite markers was studied in the 102 sporadic rectal cancer patients and then sequence analysis of the coding region of the exons 3-9 of hTCF-4 gene was carried out in a group of cases with high-frequency MSI (MSI-H) (n = 11) and controls (n - 10). Results This study revealed several novel mutations and sequence variants. In exon 4 one local combined alteration (391insA, 392G > A, 393A > G and 395delC) and another nonsense mutation (395delC) , being presence in most of MSI-H cases (5/10, 50% and4/10, 40% , respectively), but completely absence in the controls, were likely to have any functional relevance. Conclusion The mutations and sequence variants in exon 4 may be involved in a portion of patients with sporadic rectal cancers characterized by MSI-H.