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Related Experiment Videos

Cystic fibrosis gene.

A Harris1

  • 1Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.

British Medical Bulletin
|October 1, 1992
PubMed
Summary

Cystic fibrosis transmembrane conductance regulator (CFTR) is an ABC-transporter protein. The most common mutation, delta F508, affects CFTR function and is prevalent in Northern Europe and North America.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Biochemistry

Background:

  • Cystic fibrosis is a genetic disorder caused by mutations in the cystic fibrosis gene.
  • The gene encodes the cystic fibrosis transmembrane conductance regulator (CFTR) protein, a member of the ABC-transporter superfamily.
  • CFTR is crucial for epithelial cell function and ion transport.

Purpose of the Study:

  • To describe the structure and function of the cystic fibrosis transmembrane conductance regulator (CFTR) protein.
  • To identify the location and prevalence of disease-associated mutations within the CFTR gene.

Main Methods:

  • Genomic DNA analysis to identify gene structure and mutations.
  • Protein structure prediction based on cDNA sequence.
  • Analysis of mutation frequency in specific populations.

Main Results:

  • The cystic fibrosis gene spans 230 kb and contains 27 exons.
  • The predicted CFTR protein has 1480 amino acids with a structure including membrane-spanning domains, nucleotide-binding folds (NBF), and a regulatory (R) domain.
  • The delta F508 mutation, a deletion of phenylalanine at position 508 in the first NBF, is the most common mutation, found in 70% of CF genes in Northern Europe and North America.

Conclusions:

  • CFTR protein structure is conserved and homologous to ABC-transporters.
  • Mutations in the NBFs are common causes of cystic fibrosis.
  • The delta F508 mutation is a significant driver of cystic fibrosis in specific geographic regions.

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