Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT).
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.
White
M B
MB
Laboratory of Viral Carcinogenesis, National Cancer Institute, Frederick Cancer Research and Development Center (FCRDC), Frederick, Maryland.
Krueger
L J
LJ
Holsclaw
D S
DS
Gerrard
B C
BC
Stewart
C
C
Quittell
L
L
Dolganov
G
G
Baranov
V
V
Ivaschenko
T
T
Kapronov
N I
NI
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
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA