Identification of the linkage of mutations causing cystic fibrosis to different alleles of a tetranucleotide repeat in intron 6a of the CFTR gene

Potapova OYu; O V Voronina; V S Gaitskhoki; E V Bogacheva; T E Uembitskaya; E A Kuprina; N I Kapranov; Berlin YuA; E I Schwartz

doi:10.1006/bmmb.1994.1024

Identification of the linkage of mutations causing cystic fibrosis to different alleles of a tetranucleotide repeat in intron 6a of the CFTR gene

Biochem Med Metab Biol. 1994 Apr;51(2):185-7. doi: 10.1006/bmmb.1994.1024.

Authors

Potapova OYu¹, O V Voronina, V S Gaitskhoki, E V Bogacheva, T E Uembitskaya, E A Kuprina, N I Kapranov, Berlin YuA, E I Schwartz

Affiliation

¹ Institute for Nuclear Physics, Russian Academy of Sciences, St. Petersburg.

PMID: 7519028
DOI: 10.1006/bmmb.1994.1024

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Alleles*
Cystic Fibrosis / genetics*
Cystic Fibrosis Transmembrane Conductance Regulator
Genetic Linkage*
Humans
Introns
Membrane Proteins / genetics*
Mutation*
Repetitive Sequences, Nucleic Acid

Substances

CFTR protein, human
Membrane Proteins
Cystic Fibrosis Transmembrane Conductance Regulator