title: [Clinical and molecular problems in polycystic kidneys].
abstract: The authors examined, using nephrological, genealogical and molecular genetic methods, 85 subjects from 19 families with autosomal dominant heredity of polycystic kidney disease. Using the probe 3HVR alpha-globin and restriction endonuclease Pvu II, the authors assessed 95% informative families in the given group and the reliability of the diagnosis was also 95%. The authors tested the homogeneity of the disease in the Czech population and the applicability of the mentioned probe and endonuclease for molecular genetic testing of our population.
authors.affiliation: Subkatedra lékarské genetiky, Institutu pro dalsí vzdĕlávání lékarů a farmaceutů, Praha.
authors.forename: M
authors.initials: M
authors.lastname: Kucerová
authors.forename: E
authors.initials: E
authors.lastname: Zdárský
authors.forename: V
authors.initials: V
authors.lastname: Gregor
authors.forename: M
authors.initials: M
authors.lastname: Merta
authors.forename: J
authors.initials: J
authors.lastname: Kapras
authors.forename: M
authors.initials: M
authors.lastname: Dolanská
mesh_terms: D002885:Chromosomes, Human, Pair 16; D015342:DNA Probes; D006801:Humans; D010375:Pedigree; D007690:Polycystic Kidney Diseases / Q000175:diagnosis / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D011296:Prenatal Diagnosis
chemical_list: D015342:DNA Probes
vernacular_title: Klinická a molekulární problematika polycystických ledvin.