Identification of three novel mutations (457 TAT→G, D192G, Q685X) in the Slovenian CF patients

Chromosomes from a cohort of 60 Slovenian families, corresponding to the 121 cystic fibrosis (CF) chromosomes available, were fully scanned for mutations in the coding sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene (The 60 families yielded 121 CF alleles because the...

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Bibliographic Details
Published in:Human genetics 1994-06, Vol.93 (6), p.659-662
Main Authors: AUDREZET, M.-P, CANKI-KLAIN, N, MERCIER, B, BRACAR, D, VERLINGUE, C, FEREC, C
Format: Article
Language:English
Subjects:
Alleles
Base Sequence
Biological and medical sciences
Cohort Studies
cystic fibrosis
Cystic Fibrosis - ethnology
Cystic Fibrosis - genetics
Cystic Fibrosis Transmembrane Conductance Regulator
DNA
Gastroenterology. Liver. Pancreas. Abdomen
Humans
Liver. Biliary tract. Portal circulation. Exocrine pancreas
man
Medical sciences
Membrane Proteins - genetics
Molecular Sequence Data
Mutation
Other diseases. Semiology
Slovenia
transmembrane conductance regulator
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Summary:Chromosomes from a cohort of 60 Slovenian families, corresponding to the 121 cystic fibrosis (CF) chromosomes available, were fully scanned for mutations in the coding sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene (The 60 families yielded 121 CF alleles because the mother of one patient was also affected). This corresponds to the 27 exons and intron/exon boundaries that have been studied in chromosomes carrying unidentified alleles. As a result of this survey 84% of the alleles are now clearly identified and we describe in this paper three novel mutations (457 TAT-->G, D192G, and Q685X).
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00201566