title: [Use of the recombinant DNA technic in studying cystic fibrosis in 14 Spanish families: detection of carriers and healthy subjects].
abstract: Fourteen Spanish families, containing at least one affected child with cystic fibrosis, were typed for restriction fragment length polymorphisms (RFLPs) by proper pJ3.11, pmet H and pmet D. Nine (64.3%) were fully informative for prenatal diagnosis and carrier detection; four (28.5%) were partially informative and prenatal exclusion of an affected fetus could be carried out in half of pregnancies. One (7.1%) was uninformative for these probes. Allelic frequencies obtained have also been analized, being pJ3.11 probe the most informative in our families.
authors.affiliation: Departamento de Genética, Fundación Jiménez Díaz, Madrid.
authors.forename: E
authors.initials: E
authors.lastname: Fernández García
authors.forename: J
authors.initials: J
authors.lastname: Benítez Ortiz
authors.forename: M
authors.initials: M
authors.lastname: Villamar López
authors.forename: C
authors.initials: C
authors.lastname: Ayuso García
authors.forename: C
authors.initials: C
authors.lastname: Ramos Corrales
authors.forename: A
authors.initials: A
authors.lastname: Sánchez Cascos
authors.forename: M
authors.initials: M
authors.lastname: Baiget
authors.forename: E
authors.initials: E
authors.lastname: Del Río
mesh_terms: D000483:Alleles; D002648:Child; D003550:Cystic Fibrosis / Q000235:genetics*; D004274:DNA, Recombinant; D005260:Female; D005787:Gene Frequency; D005817:Genetic Counseling; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D004274:DNA, Recombinant
vernacular_title: Aplicación de las técnicas de ADN recombinante al estudio de 14 familias españolas con fibrosis quística: detección de portadores y sanos.