A Mutation in the Second Nucleotide Binding Fold of the Cystic Fibrosis Gene

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1991 Mar 1

PMID 1998343

Citations 41

Authors

L Osborne

R Knight

G Santis

M Hodson

Affiliations

Soon will be listed here.

Abstract

The discovery last year of the deletion of a phenylalanine residue at amino acid position 508 of the cystic fibrosis (CF) gene has meant that approximately 70% of mutant chromosomes associated with CF can be accounted for. We report the finding of a substitution at nucleotide position 4041 of the CF gene, resulting in a change from asparagine to lysine at amino acid position 1303. We believe that this is a disease-causing mutation, as it involves a nonconservative amino acid change and has only been found on CF chromosomes with a consistent haplotype background. The mutation was detected using direct sequencing of PCR-amplified genomic DNA and was confirmed by dot hybridization to both normal and mutant allele-specific oligonucleotides. The mutation was detected on three chromosomes from four individuals but not on any normal chromosome. Its presence in the heterozygous state is not correlated with the clinical status of the individual patients.

Citing Articles

Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia.

Banjar H, Al-Mogarri I, Nizami I, Al-Haider S, Almaghamsi T, AlKaf S Int J Pediatr Adolesc Med. 2021; 8(1):25-28.

PMID: 33718573 PMC: 7922840. DOI: 10.1016/j.ijpam.2019.12.002.

Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.

Banjar H, Tuleimat L, El Seoudi A, Mogarri I, Alhaider S, Nizami I Ann Saudi Med. 2020; 40(1):15-24.

PMID: 32026723 PMC: 7012030. DOI: 10.5144/0256-4947.2020.15.

Update and Review: Cystic Fibrosis.

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A rapid molecular approach for chromosomal phasing.

Regan J, Kamitaki N, Legler T, Cooper S, Klitgord N, Karlin-Neumann G PLoS One. 2015; 10(3):e0118270.

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Attitudes toward cystic fibrosis carrier and prenatal testing and utilization of carrier testing among relatives of individuals with cystic fibrosis.

Lafayette D, Abuelo D, Passero M, Tantravahi U J Genet Couns. 2001; 8(1):17-36.

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