Department of Pathology, Dow University of Health Sciences, Karachi, Pakistan.
Ziauddin University, Karachi, Pakistan.
Biotech Histochem. 2023 Nov;98(6):382-390. doi: 10.1080/10520295.2023.2196731. Epub 2023 Apr 4.
Members of the gene family frequently are mutated in cancers including oral squamous cell carcinoma (OSCC). We investigated the correlation of histological characteristics of OSCC with gene mutations. We graded tumors and extracted genomic DNA from OSCC. The first two exons of and genes were subjected to PCR amplification and DNA sequencing followed by bioinformatic analysis to explore the structural and functional impact of the mutations on encoding of proteins. Cellular and nuclear diameters in histological sections were varied in all grades of cancer. Using sequence analysis, we identified nonsynonymous mutations in both (G12S, G15C, D54H, Q61H, Q61L, E62D, E63D, Q70E, Q70V) and (Q22P, K88R). Stop codon mutations, however, were observed in . Spatial orientation of substituted amino acids was observed despite conservation of overall structure of variant proteins. Our findings suggest that may be mutated more frequently in OSCC compared to and . Also, the histological features of nuclear and cellular diameter differed significantly between the mutated and unmutated cases.
基因家族的成员经常在包括口腔鳞状细胞癌（OSCC）在内的癌症中发生突变。我们研究了 OSCC 的组织学特征与基因突变之间的相关性。我们对肿瘤进行分级，并从 OSCC 中提取基因组 DNA。对 和 基因的前两个外显子进行 PCR 扩增和 DNA 测序，然后进行生物信息学分析，以探讨突变对编码蛋白的结构和功能的影响。在所有癌症分级中，组织学切片中的细胞和核直径均存在差异。通过序列分析，我们在 和 （G12S、G15C、D54H、Q61H、Q61L、E62D、E63D、Q70E、Q70V）中发现了非同义突变，而在 中发现了无义突变。然而， 中观察到了终止密码子突变。尽管变异蛋白的整体结构保持保守，但取代氨基酸的空间取向仍然存在。我们的研究结果表明，与 相比， 可能在 OSCC 中更频繁地发生突变。此外，突变和未突变病例的核和细胞直径的组织学特征存在显著差异。
