title: Prenatal diagnosis of cystic fibrosis in different European populations: application of denaturing gradient gel electrophoresis.
abstract: The cystic fibrosis transmembrane regulator gene, one of the most commonly mutated in the European population, was cloned in 1989 and since then has been extensively analysed in patients of various ethnic backgrounds. We have screened the entire coding sequences of the cystic fibrosis transmembrane regulator gene and identified many mutations and polymorphisms. In this paper we propose a general strategy to improve prenatal diagnosis and genetic counselling of cystic fibrosis (CF). As this approach based on denaturing gradient gel electrophoresis is adaptable to different populations, it greatly increases the sensibility and specificity of CF prenatal diagnosis.
authors.affiliation: Centre de Biogénétique, Centre Départemental de Transfusion Sanguine, Brest, France.
authors.forename: C
authors.initials: C
authors.lastname: Férec
authors.forename: C
authors.initials: C
authors.lastname: Verlingue
authors.forename: M P
authors.initials: MP
authors.lastname: Audrézet
authors.forename: H
authors.initials: H
authors.lastname: Guillermit
authors.forename: I
authors.initials: I
authors.lastname: Quéré
authors.forename: O
authors.initials: O
authors.lastname: Raguenes
authors.forename: B
authors.initials: B
authors.lastname: Mercier
mesh_terms: D015193:Chorionic Villi Sampling; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA / Q000032:analysis* / Q000737:chemistry; D004591:Electrophoresis, Polyacrylamide Gel; D005060:Europe; D005260:Female; D005602:France; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012307:Risk Factors; D017422:Sequence Analysis, DNA; D014508:Urea
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014508:Urea; D004247:DNA