title: Identification of the linkage of mutations causing cystic fibrosis to different alleles of a tetranucleotide repeat in intron 6a of the CFTR gene.
abstract: 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.
authors.affiliation: Institute for Nuclear Physics, Russian Academy of Sciences, St. Petersburg.
authors.lastname: Potapova OYu
authors.forename: O V
authors.initials: OV
authors.lastname: Voronina
authors.forename: V S
authors.initials: VS
authors.lastname: Gaitskhoki
authors.forename: E V
authors.initials: EV
authors.lastname: Bogacheva
authors.forename: T E
authors.initials: TE
authors.lastname: Uembitskaya
authors.forename: E A
authors.initials: EA
authors.lastname: Kuprina
authors.forename: N I
authors.initials: NI
authors.lastname: Kapranov
authors.lastname: Berlin YuA
authors.forename: E I
authors.initials: EI
authors.lastname: Schwartz
mesh_terms: 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
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator