Molecular diagnosis of cystic fibrosis

@article{Shrimpton2002MolecularDO,
  title={Molecular diagnosis of cystic fibrosis},
  author={Antony Shrimpton},
  journal={Expert Review of Molecular Diagnostics},
  year={2002},
  volume={2},
  pages={240 - 256}
}
  • A. Shrimpton
  • Published 1 May 2002
  • Medicine
  • Expert Review of Molecular Diagnostics
A review of the current molecular diagnosis of cystic fibrosis including an introduction to cystic fibrosis, the gene function, the phenotypic variation, who should be screened for which mutation, newborn and couple screening, quality assurance, phenotype–genotype correlation, methods and method limitations, options, statements, recommendations, useful websites and treatments. 
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7 Citations
Background Citations
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7 Citations

Citation Type

Citation Type

Cystic fibrosis carrier screening: steps in the development of a mutation panel.
TLDR
Data is presented to indicate that an expanded pan-ethnic mutation panel, containing at least 47 mutations, would provide significantly greater CF-carrier identification in the ethnically diverse U.S. population.
Mutation analysis of CFTR gene in 70 Iranian cystic fibrosis patients.
TLDR
Single strand conformation polymorphism analysis of exons 3, 7, 10, 11 and 17b of the CFTR gene was performed in patients in whom no mutation could be identified on one or both CFTR genes, and only three mutations were found.
Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations.
The Genetics of CFTR: Genotype - Phenotype Relationship, Diagnostic Challenge and Therapeutic Implications
TLDR
The most reliable vision of the basic defect is that, in the airway epithelia of CF patients, a CFTR deficiency causes an anomalous dual ion transport associated to an altered water absorption that leads to sticky mucus and impaired mucociliary clearance.
Detecting Common CFTR Mutations by Reverse Dot Blot Hybridization Method in Cystic Fibrosis First Report from Northern Iran
TLDR
Only one mutation, DeltaF508, was found in 7 patients accounting for 21.7% (13/60) of alleles and can be used for planning future screening and appropriate genetic counseling programs in Iranian CF families.
Frequency of common CFTR gene mutations in Venezuelan patients with cystic fibrosis.
TLDR
This report represents the largest group of Venezuelan CF patients ever examined and includes a wider mutation panel than has been previously studied in this population, and a high percentage of the causative alleles remain unidentified.
The strange case of the "lumper" lamin A/C gene and human premature ageing.

References

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Molecular diagnostics for cystic fibrosis.
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The authors thank the other members of the ACMG/CAP Biochemical and Molecular Genetics Resource Committee, Jill Kachin and other members of the CAP support staff, and all the participating…
Cystic fibrosis carrier screening: steps in the development of a mutation panel.
TLDR
Data is presented to indicate that an expanded pan-ethnic mutation panel, containing at least 47 mutations, would provide significantly greater CF-carrier identification in the ethnically diverse U.S. population.
Update and Review: Cystic Fibrosis
TLDR
The symptoms of CF, patient management, gene function, genetics, genotype/phenotype correlation, and genetic counseling issues are explored.
A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.
Therapies directed at the basic defect in cystic fibrosis.
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TLDR
The use of denaturing gradient gel electrophoresis to scan the CFTR gene in cystic fibrosis patients from Southern Italy who were negative for the common CF mutations was described, and rare mutations were found.
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