Referenced in: none

Automatically associated channels: Kir6.2

Title: Cystic fibrosis mutation frequencies in an Irish population.

Authors: J Devaney, M Glennon, G Farrell, M Ruttledge, T Smith, J A Houghton, M Maher

Journal, date & volume: Clin. Genet., 2003 Feb , 63, 121-5

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/12630958

Abstract
The incidence of cystic fibrosis (CF) at birth in Ireland is 1/1461. Neonate CF genetic testing is not routinely performed in Ireland. Currently, screening is only carried out where there is clinical evidence or a family history to suggest disease. Here we report the frequencies of common CF mutations occurring in an Irish population composed of samples collected from western, mid-western and southern regions of Ireland. Rarer CF mutations were also identified in a selected number of CF patients. In addition, a number of polymorphisms were identified, some of which are reported to be functionally and phenotypically important.