title: Exhaustive screening of exon 10 CFTR gene mutations and polymorphisms by denaturing gradient gel electrophoresis: applications to genetic counselling in cystic fibrosis.
abstract: Several mutations in the cystic fibrosis (CF) gene have been reported. Ten, including the most prevalent mutation in Caucasians, delta F508, are located in exon 10 of the gene, in addition to five sequence polymorphisms. We have previously presented a strategy based on denaturing gradient gel analysis for the rapid detection of any nucleotide variation in all the exons and their immediate flanking regions. We now report the application of this method to the simultaneous detection of all mutations and polymorphisms located in exon 10, together with the use of exon 10 polymorphisms, especially the most frequent one (M470V), as intragenic markers for prenatal diagnosis of cystic fibrosis in families with at least one affected child and unknown disease-causing mutations.
authors.affiliation: Laboratoire de Génétique Moléculaire et de Diagnostic Prénatal, INSERM U91, CHU Henri, Mondor, Créteil, France.
authors.forename: N
authors.initials: N
authors.lastname: Ghanem
authors.forename: P
authors.initials: P
authors.lastname: Fanen
authors.forename: J
authors.initials: J
authors.lastname: Martin
authors.forename: P
authors.initials: P
authors.lastname: Conteville
authors.forename: Z
authors.initials: Z
authors.lastname: Yahia-Cherif
authors.forename: M
authors.initials: M
authors.lastname: Vidaud
authors.forename: M
authors.initials: M
authors.lastname: Goossens
mesh_terms: D001483:Base Sequence; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D005091:Exons; D005817:Genetic Counseling; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*