A 3′ splice site consensus sequence mutation in the cystic fibrosis gene
- 1 September 1990
- journal article
- conference paper
- Published by Springer Nature in Human Genetics
- Vol. 85 (4) , 450-453
- https://doi.org/10.1007/bf02428306
Abstract
In the cystic fibrosis (CF) gene, recently cloned, a three base pair deletion (ΔF508) 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.This publication has 33 references indexed in Scilit:
- Identification of the Cystic Fibrosis Gene: Genetic AnalysisScience, 1989
- Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNAScience, 1989
- Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA PolymeraseScience, 1988
- Patterns of polymorphism and linkage disequilibrium for cystic fibrosisGenomics, 1987
- A candidate for the cystic fibrosis locus isolated by selection for methylation-free islandsNature, 1987
- The β0‐thalassemia in an American black family is due to a single nucleotide substitution in the acceptor splice junction of the second intervening sequenceAmerican Journal of Hematology, 1986
- Cystic Fibrosis Locus Defined by a Genetically Linked Polymorphic DNA MarkerScience, 1985
- A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7Nature, 1985
- Role of the 3′ splice site consensus sequence in mammalian pre-mRNA splicingNature, 1985
- Haemophilia B caused by a point mutation in a donor splice junction of the human factor IX geneNature, 1985