Articles in Press
Volume 3 Issue 1
Prevalence of F508del Mutation and Evaluation of Molecular Screening for Cystic Fibrosis in Brazil
Sabrina Gonçalves MS*, Fabíola Rossi Menegotto PhD, Louise Lapagesse de Camargo Pinto MD, PhD, Norberto Ludwig Neto MD, Maria Elizabeth Menezes PhD, Celso Spada PhD
Cystic fibrosis (CF) is considered the most common lethal inherited disease among children and young people of Caucasian origin and it is a consequence of mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR). As established by the Brazilian Health Ministry Unified Health System, people who have a positive immunoreactive trypsin (IRT) result test and a positive sweat test are referred for molecular investigation of the F508del mutation in the CFTR gene.