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The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR Alleles by Bernhard Steiner; Kaspar Truninger; Javier Sanz; André Schaller; Sabina Gallati is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR Alleles about?

## Communicated by Garry Cutting Classic cystic fibrosis (CF) is caused by two loss-of-function mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, whereas patients with nonclassic CF have at least one copy of a mutant gene that retains partial function of the CFTR protein. In addition, there are several other phenotypes associated with CFTR gene mutations, such as idiopathic chronic pancreatitis. In CFTR-associated disorders and in nonclassic CF, often only one CFTR mutation or no CFTR mutations can be detected. In this study, we screened 23 patients with CFTR-associated disorders for CFTR mutations by complete gene testing and quantitative transcript analysis. Mutations were found in 10 patients. In cells from respiratory epithelium, we detected aberrant splicing of CFTR mRNA in all investigated individuals. We observed a highly significant association between the presence of coding single-nucleotide polymorphisms (coding SNPs, or cSNPs) and increased skipping of exon 9 and 12. This association was found both in patients and in normal individuals carrying the same cSNPs. The cSNPs c.1540A4G, c.2694T4G, and c.4521G4A may have affected pre-mRNA splicin

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Author

Bernhard Steiner; Kaspar Truninger; Javier Sanz; André Schaller; Sabina Gallati

Publisher

Hindawi Limited

Published

2004

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)