Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy

摘要: Cystic fibrosis (CF) is a multisystem disorder characterised by mutations of the CFTR gene, which encodes for an important component in coordination electrolyte movement across epithelial cell membranes. Symptoms are pulmonary disease, pancreatic exocrine insufficiency, male infertility and elevated sweat concentrations. The gene has numerous (>1000) functionally polymorphisms (>200). Early identification to provide appropriate therapeutic interventions, prognostic genetic counselling ensure access specialised medical services. However, molecular diagnosis direct mutation screening proved difficult certain ethnic groups due allelic heterogeneity variable frequency causative mutations. We applied scanning approach using DHPLC system analysing specifically all exons characterise sequence variations subgroup CF Italian patients from Lazio region (Central Italy) extensive heterogeneity. have identified total 36 different representing 88% chromosomes. Among these two novel mutations, including one missense (H199R) microdeletion (4167delCTAAGCC). Using this approach, we were able increase our standard power rate detection about 11% (77% vs. 88%).