Molecular bases for cystic fibrosis in the Sardinian population

Summary Cystic fibrosis (CF) is a relatively uncommon genetic disorder in the Sardinian population. In this study, we have defined the frequency of the most common CF mutation (ΔF508) and carried out a genotypephenotype correlation analysis in a group of 21 patients with CF and of Sardinian descent. We detected the ΔF508 mutation in 24 (57%) out of the 42 CF chromosome investigated. This mutation was found in the homozygous state in 9 patients and in the heterozygous state in 6 patients. The remaining 6 patients had other mutations. The ΔF508 mutation was associated only with the KM19/XV2c 2 1 haplotype. Genotype-phenotype correlation analysis did not give clear-cut results, probably because of the small number of patients investigated. However, out of the four patients with meconium ileus, three were homozygous and one was heterozygous for the ΔF508 mutation, confirming that the presence of ΔF508 or other severe mutations in the homozygous state is the prerequisite for the development of meconium ileus.