Identification of the Linkage of Mutations Causing Cystic Fibrosis to Different Alleles of a Tetranucleotide Repeat in Intron 6a of the CFTR Gene

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 (Δ F-508, G542X, G551D, R553X, R1162X, W1282X, N1303K, R334W, and R347P) was studied. The linkage of Δ F-508, G542X, and N1303K to a six-copy allele and of R334...

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Veröffentlicht in:Biochemical medicine and metabolic biology 1994-04, Vol.51 (2), p.185-187
Hauptverfasser: Potapova, O.Y., Voronina, O.V., Gaitskhoki, V.S., Bogacheva, E.V., Uembitskaya, T.E., Kuprina, E.A., Kapranov, N.I., Berlin, Y.A., Schwartz, E.I.
Format: Artikel
Sprache:eng
Schlagworte:
Alleles
Cystic Fibrosis - genetics
Cystic Fibrosis Transmembrane Conductance Regulator
Genetic Linkage
Humans
Introns
Membrane Proteins - genetics
Mutation
Repetitive Sequences, Nucleic Acid
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Zusammenfassung:The linkage of the intragenic polymorphic (GATT) n repeat to a number of cystic fibrosis transmembrane conductance regulator gene mutations (Δ F-508, G542X, G551D, R553X, R1162X, W1282X, N1303K, R334W, and R347P) was studied. The linkage of Δ F-508, G542X, and N1303K to a six-copy allele and of R334W to a seven-copy allele of the repeat was found.
ISSN:0885-4505
1557-7651
DOI:10.1006/bmmb.1994.1024