Detection of mutations in Cuban cystic fibrosis patients

Cystic Fibrosis (CF) is the most common autosomal recessive disease in Caucasian populations, with an incidence of 1 out of 5000 newborns in Cuba. Although cystic fibrosis transmembrane conductance regulator (cftr) gene was cloned and the mutation of this gene responsible for most CF cases, F508del was already identified by 1998, more than 1400 additional cftr mutations have been described. The mutations for the cftr gene among the Cuban CF patient population are highly heterogeneous. Therefore, we have used two screening techniques, denaturing gradient gel electrophoresis (DGGE) and single strand conformation polymorphism (SSCP) in order to detect and identify cftr sequence changes in this population. In the present study, 9 different mutations were detected in our patients, together with 4 previously described nucleotide sequence polymorphisms.