Two novel frame-shift mutations: 977 insA in exon 6B, and 4016 insT in exon 21, of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

Cheadle, Jeremy P. ORCID: https://orcid.org/0000-0001-9453-8458, AI-Jader, Layla N. and Meredith, Alison L. 1993. Two novel frame-shift mutations: 977 insA in exon 6B, and 4016 insT in exon 21, of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Human Molecular Genetics 2 (3) , pp. 317-319. 10.1093/hmg/2.3.317

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Abstract

Cystic Fibrosis (CF) is the most common severe autosomal recessive disorder of the Caucasian population, with an estimated incidence of 1/ 2,500 and a heterozygote (carrier) frequency of 1/ 25. In 1989, the cystic fibrosis transmembrane conductance regulator gene, and the most common mutation (delta F508), were identified (1,2,3). The predicted protein, consisting of 1480 amino acids, has two membrane spanning domains, two nucleotide binding folds, and a regulatory domain. Since the characterisation of the CFTR gene, over 150 additional mutations have been identified. These mutations include substitutions, deletions, and insertions, the majority of which have been reported only in individual cases. We desacribe two novel frame-shift mutations (977 insA and 4016insT), which are infrequent in our population, and probably arose by the same mechanism.

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:	27 Oct 2022 10:18
URI:	https://orca.cardiff.ac.uk/id/eprint/69657

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