A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype

Détails

ID Serval
serval:BIB_4D8E7E366390
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype
Périodique
Human Genetics
Auteur(s)
Hergersberg  M., Balakrishnan  J., Bettecken  T., Chevalier-Porst  F., Bragger  C., Burger  R., Einschenk  I., Liechti-Gallati  S., Morris  M., Schorderet  D., Thonney  F., Moser  H., Malik  N.
ISSN
0340-6717 (Print)
Statut éditorial
Publié
Date de publication
08/1997
Volume
100
Numéro
2
Pages
220-3
Notes
Journal Article --- Old month value: Aug
Résumé
We have analysed 1173 cystic fibrosis (CF) chromosomes from Switzerland for eight mutations in the CF transmembrane conductance regulator (CFTR) gene. This permitted the identification of 88.5% of all mutations present. A novel insertion mutation in exon 20 of the CFTR gene, 3905insT, was discovered. This mutation accounted for 4.8% of CFTR gene mutations in Switzerland and has since been identified in other populations of probable Swiss descent. It is associated with a highly variable clinical phenotype but always with pancreatic insufficiency. Haplotype analysis with three intragenic microsatellites in the CFTR gene showed that the mutation is associated with a haplotype rarely identified on other CFTR alleles and, therefore, that the frequency of the mutation in Switzerland is explained by a founder effect of a relatively recent mutation event.
Mots-clé
Cystic Fibrosis/epidemiology/*genetics Cystic Fibrosis Transmembrane Conductance Regulator/*genetics DNA Primers Founder Effect Gene Frequency Genetic Screening Humans *Mutation Polymerase Chain Reaction Sequence Analysis, DNA Switzerland/epidemiology
Pubmed
Web of science
Création de la notice
28/01/2008 12:58
Dernière modification de la notice
20/08/2019 14:02
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