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首页> 外文期刊>World Journal of Gastroenterology >Novel mutations and sequence variants in exons 3-9 of human T Cell Factor-4 gene in sporadic rectal cancer patients stratified by microsatellite instability
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Novel mutations and sequence variants in exons 3-9 of human T Cell Factor-4 gene in sporadic rectal cancer patients stratified by microsatellite instability

机译：微卫星不稳定性分层的散发性直肠癌患者中人T细胞因子4基因外显子3-9的新突变和序列变异

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摘要

AIM: To establish the role of human T Cell Factor-4 (hTCF-4) gene exons 3-9 mutation status in association with sporadic rectal cancer with microsatellite instability (MSI). METHODS: Microsatellite markers were genotyped in 93 sporadic rectal cancer patients. Eleven cases were found to be high-frequency MSI (MSI-H). Sequence analysis of the coding region of the exons 3-9 of hTCF-4 gene was carried out for the 11 MSI-H cases and 10 controls (5 microsatellite stability (MSS) cases and 5 cases with normal mucosa). The sequencing and MSI identification were used. RESULTS: Several novel mutations and variants were revealed. In exon 4, one is a 4-position continuous alteration which caused amino acid change from Q131T and S132I (391insA, 392 G > A, 393 A > G and 395delC) and another nucleotide deletion (395delC) is present in MSI-H cases (5/10 and 4/10, respectively) but completely absent in the controls. CONCLUSION: Novel mutations in exon 4 of hTCF-4 gene were revealed in this study, which might be of importance in the pathogenesis of sporadic rectal cancer patients with MSI-H.
机译：目的：建立人T细胞因子4（hTCF-4）基因外显子3-9突变状态在散发性直肠癌伴微卫星不稳定性（MSI）中的作用。方法：对93例散发性直肠癌患者进行微卫星标记基因分型。发现11例是高频MSI（MSI-H）。对11例MSI-H病例和10例对照者（5例微卫星稳定（MSS）病例和5例正常黏膜病例）进行了hTCF-4基因外显子3-9编码区的序列分析。使用了测序和MSI鉴定。结果：发现了一些新颖的突变和变异。在外显子4中，一个是4位连续变化，导致Q131T和S132I发生氨基酸变化（391insA，392 G> A，393 A> G和395delC），而在MSI-H病例中存在另一个核苷酸缺失（395delC） （分别为5/10和4/10），但控件中完全没有。结论：本研究揭示了hTCF-4基因第4外显子的新突变，这可能对散发性直肠癌MSI-H患者的发病机制具有重要意义。

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