CHARACTERIZATION OF MORE THAN 85-PERCENT OF CYSTIC-FIBROSIS ALLELES IN THE GREEK POPULATION, INCLUDING 5 NOVEL MUTATIONS

To completely characterize the spectrum of mutations in the cystic fib rosis transmembrane conductance regulator gene in Greek cystic fibrosi s (CF) patients, we screened 500 CF chromosomes by denaturing gradient gel electrophoresis followed by direct sequencing. We identified 48 m utations, accounting for 85.6% of CF chromosomes. They included eight novel mutations, three of which we have described before and five (E82 2X, Y247X, 2752-26A-->G, 3152delT, and 2751+T-->A), which are describe d in this report. The detection of such a high proportion of Greek CF mutations is important for improving prenatal and genetic diagnosis of CF in Greece.