title: Comparison of high-resolution melting analysis to denaturing high performance liquid chromatography in the detection of point mutations in MEFV, F5, and F2 genes.
abstract: OBJECTIVE
  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.
  
  
  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 (MEFVE148Q and M680I, F51691G>A, and F220210G>A) of 6 mutations were successfully detected with DHPLC.
  
  
  CONCLUSIONS
  Our study showed that HRM is more sensitive than DHPLC for detection of the studied point mutations.
authors.forename: Hülya
authors.initials: H
authors.lastname: Sümer Çelebı
authors.forename: Hilal
authors.initials: H
authors.lastname: Özdağ
mesh_terms: D002851:Chromatography, High Pressure Liquid; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods*; D006801:Humans; D009691:Nucleic Acid Denaturation; D017354:Point Mutation; D000071198:Pyrin
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin