title: Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT).
abstract: We have identified three new frameshift mutations in the CFTR gene in patients with cystic fibrosis (CF). The first one involves the deletion of an adenine nucleotide in exon 4 in an African-American patient (CF444delA), the second involves the insertion of a cytosine nucleotide in exon 13 in an Italian patient (CF2522insC), and the third results from the deletion of a thymidine nucleotide in exon 19 in a Soviet patient (CF3821delT). Each mutation is predicted to result in premature termination of the CFTR protein.
authors.affiliation: Laboratory of Viral Carcinogenesis, National Cancer Institute, Frederick Cancer Research and Development Center (FCRDC), Frederick, Maryland.
authors.forename: M B
authors.initials: MB
authors.lastname: White
authors.forename: L J
authors.initials: LJ
authors.lastname: Krueger
authors.forename: D S
authors.initials: DS
authors.lastname: Holsclaw
authors.forename: B C
authors.initials: BC
authors.lastname: Gerrard
authors.forename: C
authors.initials: C
authors.lastname: Stewart
authors.forename: L
authors.initials: L
authors.lastname: Quittell
authors.forename: G
authors.initials: G
authors.lastname: Dolganov
authors.forename: V
authors.initials: V
authors.lastname: Baranov
authors.forename: T
authors.initials: T
authors.lastname: Ivaschenko
authors.forename: N I
authors.initials: NI
authors.lastname: Kapronov
mesh_terms: D000328:Adult; D000349:Africa / Q000208:ethnology; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000208:ethnology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA; D005091:Exons; D016368:Frameshift Mutation; D006801:Humans; D007558:Italy / Q000208:ethnology; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D014586:USSR / Q000208:ethnology; D014481:United States
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA