Comparison of high-resolution melting analysis to denaturing high performance liquid chromatography in the detection of point mutations in MEFV, F5, and F2 genes

Celebi H. S., ÖZDAĞ SEVGİLİ H.

TURKISH JOURNAL OF MEDICAL SCIENCES, cilt.44, sa.5, ss.713-719, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 44 Sayı: 5
  • Basım Tarihi: 2014
  • Doi Numarası: 10.3906/sag-1304-64
  • Dergi Adı: TURKISH JOURNAL OF MEDICAL SCIENCES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.713-719
  • Anahtar Kelimeler: Point mutations, high-resolution melting analysis, denaturing high-performance liquid chromatography, FAMILIAL MEDITERRANEAN FEVER, DHPLC, POLYMORPHISM, IDENTIFICATION, VALIDATION, BRCA1, FMF
  • Ankara Üniversitesi Adresli: Evet

Özet

Background/aim: 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.