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. 1995 Dec;32(12):972–975. doi: 10.1136/jmg.32.12.972

The Irish cystic fibrosis database.

S M Cashman 1, A Patino 1, M G Delgado 1, L Byrne 1, B Denham 1, M De Arce 1
PMCID: PMC1051780  PMID: 8825927

Abstract

We have found records of 1014 Irish cystic fibrosis patients alive by December 1994, belonging to 883 families. Prevalence in the population is 1/3475 and incidence at birth 1/1461, with a gene frequency of 2.6%. Twenty percent of the patients are aged over 20 years, but at present survival rate falls rapidly after that age. We have identified 85% of the mutations on the CFTR gene in a sample of 29% of the families (506 CF chromosomes). Mutation delta F508 is found in 72% of Irish CF chromosomes, G551D in 6.9%, and R117H in 2%. These are the highest frequencies reported for the latter two mutations world wide. Another seven mutations are found in an additional 4% of CF families. We present new microsatellite haplotype data that could be useful for genetic counselling of CF families bearing some of the 15% of CF mutations still unidentified, and comment on possible uses of our database.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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