[Clinical and molecular problems in polycystic kidneys].
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.
Kucerová
M
M
Subkatedra lékarské genetiky, Institutu pro dalsí vzdĕlávání lékarů a farmaceutů, Praha.
Zdárský
E
E
Gregor
V
V
Merta
M
M
Kapras
J
J
Dolanská
M
M
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
D015342:DNA Probes
Klinická a molekulární problematika polycystických ledvin.