Clinical and molecular problems of polycystic kidney disease.
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.
Kucerová
M
M
Institute for Postgraduate Medical and Pharmaceutical Education, Prague.
Zdárský
E
E
Gregor
V
V
Merta
M
M
Kapras
J
J
Dolanská
M
M
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
D015342:DNA Probes