French CF family genotype analysis shows that the R297Q mutation is a rare polymorphism.
The authors describe a cystic fibrosis family genotype analysis showing that the R297Q amino acid change is a rare polymorphism rather than a deleterious mutation as previously reported. Indeed in this family two healthy subjects have the following genotypes: delta F508/R297Q and N1303K/R297Q.
Dorval
I
I
Laboratoire de Génétique Moléculaire, CHU Ponchaillou, Rennes, France.
Jézéquel
P
P
Chauvel
B
B
Dubourg
C
C
Fergelot
P
P
Le Gall
J Y
JY
Roussey
M
M
Blayau
M
M
D000328:Adult; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D011110:Polymorphism, Genetic
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator