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Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts

✍ Scribed by Ryszard Slomski; Manfred Schloesser; Lutz-Peter Berg; Michael Wagner; Vijay V. Kakkar; David N. Cooper; Jochen Reiss

Publisher: Springer
Year: 1992
Tongue: English
Weight: 612 KB
Volume: 89
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00221949

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✦ Synopsis

Cystic fibrosis transmembrane conductance regulator (CFTR) mRNA transcripts isolated from both expressing and "non-expressing" cell types of normal individuals exhibit differential splicing to a variable extent in a region encoding the putative nucleotide binding fold of the CFTR polypeptide. Sequence analysis of the aberrant fragments obtained after cDNA polymerase chain reaction amplification confirmed the in-frame joining of exons 11 and 13. The proportion of alternative splicing is reproducible and constant in a given individual. The omission of exon 12 in a significant proportion of transcripts supports the hypothesis that a minimal amount of correctly expressed CFTR is sufficient for the maintenance of a clinically normal phenotype.

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