title: Clinical and molecular problems of polycystic kidney disease.
abstract: Using nephrological, genealogical and molecular genetic methods, the authors examined 85 members of 19 families with autosomal dominant polycystic kidney disease. With the aid of probe 3'HVR, alpha-globin and restriction endonuclease Pvu II, the families were found 95% informative. The rate of diagnostic reliability was also 95%. The authors verified the homogeneity of the disease in the Czech population and the applicability of the probe and endonuclease for molecular gene diagnostics in the population.
authors.affiliation: Institute for Postgraduate Medical and Pharmaceutical Education, Prague.
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: D000328:Adult; D015342:DNA Probes; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D007690:Polycystic Kidney Diseases / Q000175:diagnosis / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D015342:DNA Probes