title: High-resolution melting analysis for identifying sequence variations in nuclear genes for assembly factors and structural subunits of cytochrome c oxidase.
abstract: High-resolution melting (HRM) analysis is a simple, sensitive, and cost-effective screening method. HRM enables the detection of homozygous or heterozygous point sequence variants and small deletions within specific PCR products by observing temperature and shape changes in melting curve profiles using fluorescent dyes. Herein, an updated protocol for routine variant screening of nuclear genes encoding assembly factors and structural subunits of cytochrome c oxidase (COX) is described. Nonetheless, the general recommendations given for HRM analysis can be applicable for examining any genetic region of interest.
authors: Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Ke Karlovu 2, Prague 2, 12808, Czech Republic.
authors: Alžběta
authors: A
authors: Vondráčková
authors: Kateřina
authors: K
authors: Veselá
authors: Jiří
authors: J
authors: Zeman
authors: Markéta
authors: M
authors: Tesařová
mesh_terms: D003576:Electron Transport Complex IV / Q000737:chemistry* / Q000378:metabolism*; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D019906:Nuclear Magnetic Resonance, Biomolecular / Q000379:methods; D021141:Nucleic Acid Amplification Techniques / Q000379:methods; D016133:Polymerase Chain Reaction / Q000379:methods; D021122:Protein Subunits / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism*; D044366:Transition Temperature
chemical_list: D021122:Protein Subunits; D003576:Electron Transport Complex IV