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Original Article

Mutation detection sensitivity of high resolution melting in clinical samples: a comparative study between formamide and dimethyl sulfoxide

Dipa Roy, Md. Mahmudul Hasan, Ariful Haque.

High-resolution melting (HRM) is one of the widely used methods for mutation detection.
Sometimes, mutations which are rare but clinically important may not be detected. Thus, increasing
sensitivity of HRM based mutation detection method is essential. This study was particularly aimed to
establish HRM based mutation detection method with improved sensitivity. However, we had taken an
attempt to detect the mutations in transcription factor 7-like 2 (TCF7L2) gene by HRM analysis but we
experienced poor sensitivity in mutation detection. Hence, we tried to increase the sensitivity of HRM by
adding formamide and dimethyl sulfoxide (DMSO). We used the final concentration of formamide and
DMSO at 0.2% and 7%, respectively and found that formamide had better efficacy in increasing HRM
sensitivity than DMSO.

Key words: Mutation detection; High-resolution melting; Formamide; DMSO

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