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

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 p...

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Bibliographic Details
Published in:Human genetics 1994-04, Vol.93 (4), p.429-434
Main Authors: VERLINGUE, C, MERCIER, B, LECOQ, I, AUDREZET, M. P, LAROCHE, D, TRAVERT, G, FEREC, C
Format: Article
Language:English
Subjects:
Base Sequence
Biological and medical sciences
Cohort Studies
cystic fibrosis
Cystic Fibrosis - genetics
Cystic Fibrosis Transmembrane Conductance Regulator
DNA
Gastroenterology. Liver. Pancreas. Abdomen
Genetic Carrier Screening
Guthrie cards
Homozygote
Humans
Infant, Newborn
Liver. Biliary tract. Portal circulation. Exocrine pancreas
man
Medical sciences
Membrane Proteins - genetics
Molecular Sequence Data
Mutation
Neonatal Screening
Other diseases. Semiology
Retrospective Studies
screening
transmembrane conductance regulator
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Summary: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.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00201669