title: Identification of three novel mutations in the CFTR gene using temperature-optimized non-radioactive conditions for SSCP analysis.
abstract: Optimal temperature conditions for the detection of 28 known mutations on 15 exons of the human cystic fibrosis transmembrane conductance regulator gene by single strand conformation polymorphism analysis using the Diagen TGGE Apparatus were established. This procedure was applied to the detection of unknown mutations in 58 non-deltaF508 chromosomes. Three novel mutations, -471del3 (5' flanking region), 3171insC (exon 17a) and 4700(T)8/9 (3' non-translated region) of the CFTR gene were found. Mutation 3171insC occurred in conjunction with the delta F508 mutation on the other allele of a child presenting with severe pathology. Mutation -471del3 has so far only been found in one healthy individual and her father, and 4700(T)8/9 is a DNA sequence polymorphism.
authors.affiliation: Max Delbrück Zentrum für Molekulare Medizin, Berlin-Buch, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Grade
authors.forename: I
authors.initials: I
authors.lastname: Grunewald
authors.forename: I
authors.initials: I
authors.lastname: Graupner
authors.forename: F
authors.initials: F
authors.lastname: Behrens
authors.forename: C
authors.initials: C
authors.lastname: Coutelle
mesh_terms: D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004252:DNA Mutational Analysis; D004277:DNA, Single-Stranded / Q000235:genetics; D005091:Exons; D005260:Female; D006801:Humans; D007223:Infant; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009690:Nucleic Acid Conformation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: C505032:CFTR protein, human; D004277:DNA, Single-Stranded; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator