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The Irish cystic fibrosis database

S M Cashman1, A Patino, M G Delgado

  • 1Department of Genetics, Trinity College, Dublin, Ireland.

Journal of Medical Genetics
|December 1, 1995
PubMed
Summary

This study details Irish cystic fibrosis (CF) patients, identifying common CFTR gene mutations like delta F508. The findings support genetic counseling and understanding CF prevalence in Ireland.

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Area of Science:

  • Medical Genetics
  • Epidemiology
  • Pulmonary Medicine

Background:

  • Cystic Fibrosis (CF) is a significant genetic disorder.
  • Understanding CFTR gene mutations is crucial for diagnosis and treatment.
  • Epidemiological data on CF in Ireland is essential for public health initiatives.

Purpose of the Study:

  • To document the prevalence and incidence of cystic fibrosis in Ireland.
  • To identify and quantify the frequency of CFTR gene mutations in the Irish CF population.
  • To provide data for genetic counseling and future research.

Main Methods:

  • Analysis of patient records for cystic fibrosis cases in Ireland.
  • Genetic screening to identify mutations in the CFTR gene.
  • Population-based epidemiological calculations for prevalence and incidence.

Main Results:

  • 1014 Irish cystic fibrosis patients identified; prevalence 1/3475, incidence 1/1461.
  • Delta F508 mutation found in 72% of Irish CF chromosomes; G551D (6.9%) and R117H (2%) show high worldwide frequencies.
  • 85% of CFTR gene mutations identified, with 15% remaining unknown; microsatellite haplotype data presented.

Conclusions:

  • The study provides a comprehensive overview of cystic fibrosis in Ireland.
  • Specific CFTR mutations, notably delta F508, G551D, and R117H, are prevalent in the Irish population.
  • The generated data and haplotype information can aid in genetic counseling and further research into unidentified mutations.

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