PMID: 7513292Apr 1, 1994Paper

Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibrosis

Human Genetics
C VerlingueC Ferec

Abstract

The cystic fibrosis transmembrane conductance regulator (CFTR) gene encodes a cAMP-activated chloride channel, and in individuals with both alleles of the gene mutated, symptoms of CF disease are manifest. With more than 300 mutations so far described in the gene the profile of mutant alleles in a population is specific to its ethnic origin. For an analysis with an unbiased recruitment of the CF alleles in neonates of similar origin (Normandy, France), we have retrospectively analyzed the Guthrie cards of affected newborns, diagnosed by the immunoreactive trypsinogen (IRT) assay. Analysis of the 27 exons of the CFTR gene using a GC clamp denaturing gradient gel electrophoresis (DGGE) assay has enabled us to identify over 96% of the mutated alleles. Two of these were novel mutations. We would like to propose this strategy as an efficient method of retrospective molecular genetic diagnosis that can be performed wherever Guthrie cards can be obtained. Knowledge of rare alleles could be a prerequisite for CF therapy in the future.

Citations

Jun 24, 1999·Bioelectrochemistry and Bioenergetics·S KirschsteinG Löber
Nov 25, 2003·Paediatric Respiratory Reviews·Kevin W Southern, James M Littlewood
Oct 16, 2010·PLoS Genetics·Alexandre HinzpeterPascale Fanen
Jun 10, 2003·American Journal of Medical Genetics. Part a·Lorna S TimmreckRichard H Reindollar
Jan 1, 2013·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Ingrid DuguépérouxVirginie Scotet
Mar 23, 2012·PLoS Genetics·Lindsay B HendersonGarry R Cutting
Apr 21, 2001·European Journal of Human Genetics : EJHG·J LöfflerA R Janecke
May 9, 2000·Clinical and Diagnostic Laboratory Immunology·S CarnevaleM I Rodríguez
Jan 1, 1996·Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology·G Döring

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