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A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype |
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| Authors: | M. Hergersberg Jaya Balakrishnan Thomas Bettecken Francoise Chevalier-Porst Christian Brägger René Burger Inge Einschenk Sabina Liechti-Gallati Michael Morris Daniel Schorderet Francine Thonney Hans Moser Naseem Malik |
| Affiliation: | Institut für Medizinische Genetik, Universit?t Zürich, R?mistrasse 74, CH-8001 Zurich, Switzerland Tel.: +411 257 25 35; Fax: +411 262 04 70; e-mail hergie@medgen.unizh.ch, CH Universit?ts-Kinderklinik, Bern, Switzerland, CH H?pital Debrousse, Lyon, France, FR Universit?ts-Kinderklinik, Zurich, Switzerland, CH Division de Génétique Médicale, Gèneve, Switzerland, CH Division Autonome de Génétique Médicale, Lausanne, Switzerland, CH Abteilung für Medizinische Genetik, Universit?tskinderklinik, Basel, Switzerland, CH |
| Abstract: | 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. Received: 17 February 1997 / Accepted: 26 March 1977 |
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