A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin

Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Belloni, Elena, Ferrari, Maurizio, Millar-Jones, Lynne and Meredith, Alison Linda 1994. A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin. Human Molecular Genetics 3 (8) , pp. 1431-1432. 10.1093/hmg/3.8.1431

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Abstract

Cystic Fibrosis (CF) is the most common severe autosomal recessive disorder of the Caucasian population, with an estimated birth incidence of 1 in 2,500. Since the identification of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and the most common mutation (AF508) in 1989 (1,2,3), over 150 additional mutations have been characterised (4). We have recently described the molecular characterisation of 99.5% (365/367) of CF chomosomes in Wales (5). Here we report in detail the identification a novel mutation in the translation initiation codon of the CFTR gene, in a CF chromosome of Italian origin. We also describe the subsequent screening for this mutation in an Italian population.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	Oxford University Press
ISSN:	0964-6906
Last Modified:	25 Oct 2022 10:07
URI:	https://orca.cardiff.ac.uk/id/eprint/61212

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