Identification of the linkage of mutations causing cystic fibrosis to different alleles of a tetranucleotide repeat in intron 6a of the CFTR gene.
The linkage of the intragenic polymorphic (GATT)n repeat to a number of cystic fibrosis transmembrane conductance regulator gene mutations (delta F-508, G542X, G551D, R553X, R1162X, W1282X, N1303K, R334W, and R347P) was studied. The linkage of delta F-508, G542X, and N1303K to a six-copy allele and of R334W to a seven-copy allele of the repeat was found.
Potapova OYu
Institute for Nuclear Physics, Russian Academy of Sciences, St. Petersburg.
Voronina
O V
OV
Gaitskhoki
V S
VS
Bogacheva
E V
EV
Uembitskaya
T E
TE
Kuprina
E A
EA
Kapranov
N I
NI
Berlin YuA
Schwartz
E I
EI
D000483:Alleles; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D008040:Genetic Linkage; D006801:Humans; D007438:Introns; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D012091:Repetitive Sequences, Nucleic Acid
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator