A 3' Splice Site Consensus Sequence Mutation in the Cystic Fibrosis Gene

Overview

Journal Hum Genet

Specialty Genetics

Date 1990 Sep 1

PMID 2210769

Citations 24

Authors

H Guillermit

P Fanen

C Ferec

Affiliations

Soon will be listed here.

Abstract

In the cystic fibrosis (CF) gene, recently cloned, a three base pair deletion (delta F508) has been identified in a majority of CF patients. This deletion has been found in 80% of CF chromosomes in families from north west Brittany. In order to identify new mutations we have selected 43 chromosomes negative for the three base pair deletion from these families and directly sequenced exon 11 after DNA amplification by the polymerase chain reaction. We have detected a base change (G----A) at the 3' end of the consensus sequence of intron ten (namely 1717-1). This mutation destroys a splice site in the cystic fibrosis gene which probably produces a mutant allele. This single nucleotide mutation has been reported on two other CF chromosomes.

Citing Articles

Comprehensive Analysis of Combinatorial Pharmacological Treatments to Correct Nonsense Mutations in the CFTR Gene.

Venturini A, Borrelli A, Musante I, Scudieri P, Capurro V, Renda M Int J Mol Sci. 2021; 22(21).

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The Effect of Synonymous Single-Nucleotide Polymorphisms on an Atypical Cystic Fibrosis Clinical Presentation.

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Update and Review: Cystic Fibrosis.

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High-throughput real-time PCR-based genotyping without DNA purification.

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First report of three cystic fibrosis patients homozygous for the 1717-1G-->A mutation.

Padoan R, Giunta A, Marzano M, Seia M, Raia V, Ferrari M J Med Genet. 1996; 33(12):1052-4.

PMID: 9004147 PMC: 1050829. DOI: 10.1136/jmg.33.12.1052-b.

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