Prenatal Genetic Diagnosis by Arms - Pcr Method in Couples of Cftr Mutations Carriers

Mucoviscidosis is the most common genetic autosomal recessive disease in Caucasian populations, with an incidence of 1/2200 – 2500 live birth and a carrier frequency of 1 in 25 – 30 persons. The disease is caused by mutations of the CFTR gene (cystic fibrosis transductance conductance regulator), which is located on chromosome 7 in locus q31.2. The CFTR gene is a large gene (250 kpb) with 27 exons, which produces a 6.5 kpb RNA messenger, the final product being a transmembrane protein with 1480 aminoacids which form an AMPc-regulated ATP-dependent chloride channel1, 2. The CFTR protein, a low conductance chloride channel, is located in the apical membrane of epithelial cells found in pancreatic, biliary and intestinal ducts, in the tracheobronchial tubes, uriniferous tubules, genital