A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype
| Autor: | René Burger, Jaya Balakrishnan, Francine Thonney, Sabina Liechti-Gallati, Inge Einschenk, Christian Brägger, Francoise Chevalier-Porst, Daniel F. Schorderet, Naseem Malik, Michael A. Morris, H. Moser, Martin Hergersberg, Thomas Bettecken |
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| Rok vydání: | 1997 |
| Předmět: |
Genetics
congenital hereditary and neonatal diseases and abnormalities Cystic Fibrosis biology Haplotype Cystic Fibrosis Transmembrane Conductance Regulator Sequence Analysis DNA Polymerase Chain Reaction Founder Effect Cystic fibrosis transmembrane conductance regulator Exon Gene Frequency Mutation Mutation (genetic algorithm) biology.protein Humans Genetic Testing Insertion Allele Allele frequency Switzerland Genetics (clinical) DNA Primers Founder effect |
| Zdroj: | Human Genetics. 100:220-223 |
| ISSN: | 1432-1203 0340-6717 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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