Cystic fibrosis mutation frequencies in an Irish population

James Devaney; M. Glennon; G. Farrell; M. Ruttledge; T. Smith; J. A. Houghton; M. Maher

doi:10.1034/j.1399-0004.2003.00017.x

Cystic fibrosis mutation frequencies in an Irish population

James Devaney, M. Glennon, G. Farrell, M. Ruttledge, T. Smith, J. A. Houghton, M. Maher

Infectious Disease

University of Galway

Research output: Contribution to a Journal (Peer & Non Peer) › Article › peer-review

20 Citations (Scopus)

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.

Original language	English
Pages (from-to)	121-125
Number of pages	5
Journal	Clinical Genetics
Volume	63
Issue number	2
DOIs	https://doi.org/10.1034/j.1399-0004.2003.00017.x
Publication status	Published - 1 Feb 2003

Keywords

ABCC7
CFTR
Cystic fibrosis
Frequency
GMPD
Ireland
Mutation

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1034/j.1399-0004.2003.00017.x

Cite this

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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.",

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AU - Glennon, M.

AU - Farrell, G.

AU - Ruttledge, M.

AU - Smith, T.

AU - Houghton, J. A.

AU - Maher, M.

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AB - 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.

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KW - Frequency

KW - GMPD

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KW - Mutation

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Cystic fibrosis mutation frequencies in an Irish population

Abstract

Keywords

UN SDGs

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