title: [Mucoviscidosis: current diagnostic possibilities. Applications in perinatology].
abstract: The gene of cystic fibrosis is localised on the long arm of chromosome 7. DNA probes placed close to the gene enable a study of restriction polymorphism to follow the transmission of the gene in index families. It is now possible to counsel those families, who already have an affected child, with an early antenatal diagnosis at ten weeks after the last period. In our personal experience, based on a study of the genotype of 48 families, 70% were informative when they were studied by two probes corresponding to the local pJ3.11 and met. When the latter probes Km19-XV2c were studied concurrently useful information was achieved in 96%. DNA analysis non enables the detection of the chromosome carrying the deleterious gene in practically every family where there is a child suffering from the disease.
authors.affiliation: Centre Départmental de Transfusion Sanguine B.P. 454, Brest.
authors.forename: C
authors.initials: C
authors.lastname: Ferec
authors.forename: J J
authors.initials: JJ
authors.lastname: Chabaud
authors.forename: P
authors.initials: P
authors.lastname: Parent
authors.forename: J D
authors.initials: JD
authors.lastname: Dewitte
authors.forename: C
authors.initials: C
authors.lastname: Verlingue
authors.forename: J
authors.initials: J
authors.lastname: Clavier
authors.forename: J P
authors.initials: JP
authors.lastname: Saleun
mesh_terms: D002897:Chromosomes, Human, Pair 7 / Q000032:analysis*; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D015342:DNA Probes; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D006801:Humans; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D015342:DNA Probes
vernacular_title: Mucoviscidose: de nouvelles possibilités diagnostiques. Applications en anténatalogie.