Cystic fibrosis mutation frequencies in an Irish population.
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.
Devaney
J
J
National Diagnostics Center, BioResearch Ireland, National University of Ireland, Galway, Republic of Ireland. jdevaney@rcsi.ie
Glennon
M
M
Farrell
G
G
Ruttledge
M
M
Smith
T
T
Houghton
J A
JA
Maher
M
M
D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D017931:DNA Primers; D005787:Gene Frequency / Q000235:genetics*; D006801:Humans; D007494:Ireland / Q000453:epidemiology; D011110:Polymorphism, Genetic
C505032:CFTR protein, human; D017931:DNA Primers; D019005:Cystic Fibrosis Transmembrane Conductance Regulator