Two frameshift mutations in the cystic fibrosis gene.
Cystic fibrosis (CF) is a recessive disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. We have identified in exon 7 two frameshift mutations, one caused by a two-nucleotide insertion and the other caused by a one-nucleotide deletion; these mutations--CF1154insTC and CF1213delT, respectively, are predicted to shift the reading frame of the protein and to introduce UAA(ochre) termination codons at residues 369 and 368.
Iannuzzi
M C
MC
Department of Internal Medicine, University of Michigan, Ann Arbor.
Stern
R C
RC
Collins
F S
FS
Hon
C T
CT
Hidaka
N
N
Strong
T
T
Becker
L
L
Drumm
M L
ML
White
M B
MB
Gerrard
B
B
D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D004247:DNA / Q000235:genetics; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons; D016368:Frameshift Mutation; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
D004247:DNA