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Turkish Journal of Medical Sciences

DOI

10.3906/sag-1304-64

Abstract

Sensitive and cost-effective detection of point mutations is important in genetics research. Denaturing high-performance liquid chromatography (DHPLC) is known to be one of the most sensitive techniques for point mutation detection. A more recent technique, high-resolution melting (HRM), is based on the melting behavior of PCR products. In this study, the efficiency and sensitivity of HRM and DHPLC for the detection of MEFV, F5, and F2 gene point mutations were evaluated. Materials and methods: We studied 15 patients with MEFV mutations (E148Q, M680I, M694V, or V726A), 7 patients with the F51691G>A mutation, and 12 patients with the F220210G>A mutation. All mutations were screened by HRM and DHPLC. Results: All mutations were successfully detected by HRM. However, only 4 (MEFV E148Q and M680I, F51691G>A, and F220210G>A) of 6 mutations were successfully detected with DHPLC. Conclusion: Our study showed that HRM is more sensitive than DHPLC for detection of the studied point mutations.

Keywords

Point mutations, high-resolution melting analysis, denaturing high-performance liquid chromatography

First Page

713

Last Page

719

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