Abstract

Objective: To use Sanger sequencing to identify mutations in the CLMN (calmin) and MYLK (myosin light chain kinase) genes in patients with oral squamous cell carcinoma (OSCC) and determine their specifications.
Methodology: This cross-sectional study was carried out at Baqai Medical University and KIRAN Hospital, Karachi, from December 2023 to June 2024. Peripheral blood samples from 106 OSCC patients with histological confirmation were obtained. Sanger sequencing was used to evaluate target genes (CLMN and MYLK) and amplified using PCR. BLAT and MEGA software were used for bioinformatics analysis, and the findings were aligned with the hg38.
Results: Out of 106 people, 83.1% male and 16.9% female, had their 41 MYLK and 65 CLMN gene sequences examined. For both CLMN and MYLK, mutation frequencies were 24.6% and 24.3%, respectively, with synonymous and non-synonymous mutations found in frequently impacted locations within each gene.
Conclusion: About 24% of patients with OSCC had MYLK and CLMN mutations, which may indicate a function for these proteins in the pathophysiology of OSCC.

Key words: CLMN gene mutation, oral squamous cell carcinoma, OSCC, MYLK gene mutation, Sanger sequencing.