BACKGROUND Heteroduplex scanning techniques usually detect all heterozygotes, including common variants not of clinical interest. METHODS We conducted high-resolution melting analysis on the 24 exons of the ACVRL1 and ENG genes implicated in hereditary hemorrhagic telangiectasia (HHT). DNA in samples from 13 controls and 19 patients was PCR amplified in the presence of LCGreen I, and all 768 ...

Activation of oncogenic proteins is an important mechanism in carcinogenesis. The BRAF gene, located on chromosome 7q34, encodes a serine-threonine kinase that acts downstream of RAS in the RAS/RAF/MEK/ERK signaling pathway involved in regulating cell proliferation and survival. On activation of RAS, the BRAF kinase is activated and sequentially phosphorylates and activates MEK and ERK. A mutat...

BACKGROUND High-resolution DNA melting is a closed-tube method for genotyping and variant scanning that depends on the thermal stability of PCR-generated products. Instruments vary in thermal precision, sample format, melting rates, acquisition, and software. Instrument genotyping accuracy has not been assessed. METHODS Each genotype of the single nucleotide variant (SNV) (c.3405-29A>T) of CP...

BACKGROUND High-resolution amplicon melting analysis was recently introduced as a closed-tube method for genotyping and mutation scanning (Gundry et al. Clin Chem 2003;49:396-406). The technique required a fluorescently labeled primer and was limited to the detection of mutations residing in the melting domain of the labeled primer. Our aim was to develop a closed-tube system for genotyping and...

Genotyping by amplicon melting is a minimalistic approach to geno-typing, requiring only PCR, a fluorescent DNA dye, and single-color acquisition of a melting curve in a closed tube. Multiplex genotyping for the F5 1 [coagulation factor V (proaccelerin, labile factor)] Le-iden (1691GϾA), F2 [coagulation factor II (thrombin)] 20210GϾA, and MTHFR [methylenetetrahy-drofolate reductase (NAD(P)H)] 1...

Currently, the widely used automated capillary electrophoresis-based short tandem repeat (STR) genotyping method for genetic screening in forensic practice is laborious, time-consuming, expensive, and technically challenging in some cases. Thus, new molecular-based strategies for conclusively identifying forensically relevant biological evidence are required. Here, we used high-resolution melti...

Zambounis A., Samaras A., Xanthopoulou A., Osathanunkul M., Schena L., Tsaftaris A., Madesis P. (2016): Identification of Phytophthora species by a high resolution melting analysis: an innovative tool for rapid differentiation. Plant Protect. Sci., 52. A new molecular method via the high resolution melting (HRM) analysis of the Ypt1 gene non-coding regions was validated for ten Phytophthora spe...