title: Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations.
abstract: To completely characterize the spectrum of mutations in the cystic fibrosis transmembrane conductance regulator gene in Greek cystic fibrosis (CF) patients, we screened 500 CF chromosomes by denaturing gradient gel electrophoresis followed by direct sequencing. We identified 48 mutations, accounting for 85.6% of CF chromosomes. They included eight novel mutations, three of which we have described before and five (E822X, Y247X, 2752-26A-->G, 3152delT, and 2751 + T-->A), which are described 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.
authors.affiliation: First Department of Pediatrics, Athens University, St. Sophia's Children's Hospital, Greece.
authors.forename: M
authors.initials: M
authors.lastname: Tzetis
authors.forename: E
authors.initials: E
authors.lastname: Kanavakis
authors.forename: T
authors.initials: T
authors.lastname: Antoniadi
authors.forename: S
authors.initials: S
authors.lastname: Doudounakis
authors.forename: G
authors.initials: G
authors.lastname: Adam
authors.forename: C
authors.initials: C
authors.lastname: Kattamis
mesh_terms: D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics* / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D017931:DNA Primers; D005091:Exons; D005260:Female; D005838:Genotype; D006115:Greece; D006239:Haplotypes; D006801:Humans; D007438:Introns; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation; D017354:Point Mutation
chemical_list: C505032:CFTR protein, human; D017931:DNA Primers; D019005:Cystic Fibrosis Transmembrane Conductance Regulator