title: [DNA diagnosis in families with autosomal dominant hereditary polycystic kidney disease].
abstract: In 1990-1992 110 patients with polycystic kidney disease adult type (ADPKD) were contacted. Forty-nine families were examined by Southern's RFLP method (standard probe 3'HVR and Pvu II restrictase). Of 424 members of these families only 25 (5.9%) refused the examination. So far 337 examinations were completed, 62 are under way. In 32 cases of 109 subjects at risk of 50% ADPKD the affection was proved with a probability higher than 95%, in 77 subjects (and 6 subjects with a 25% risk) were eliminated with an equal probability. In two families successful prenatal examinations of the foetus were accomplished. Evaluation of attitudes to DNA diagnostics revealed in our patients a greater willingness to attend postnatal examinations (up to 98%) and a smaller willingness to have prenatal examinations (21%), as compared with data published abroad.
authors.affiliation: Oddĕlení lékarské genetiky FN 2 s FP, Praha.
authors.forename: J
authors.initials: J
authors.lastname: Kapras
authors.forename: J
authors.initials: J
authors.lastname: Stekrovä
authors.forename: J
authors.initials: J
authors.lastname: Zidovská
authors.forename: A
authors.initials: A
authors.lastname: Horínek
authors.forename: I
authors.initials: I
authors.lastname: Mazura
authors.forename: M
authors.initials: M
authors.lastname: Merta
authors.forename: R
authors.initials: R
authors.lastname: Brdicka
mesh_terms: D000328:Adult; D004247:DNA / Q000032:analysis; D005260:Female; D005819:Genetic Markers; D006801:Humans; D016891:Polycystic Kidney, Autosomal Dominant / Q000175:diagnosis* / Q000235:genetics; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D005819:Genetic Markers; D004247:DNA
vernacular_title: Problémy DNA diagnostiky v rodinách s autosomálnĕ dominantnĕ dĕdicnou polycystickou chorobou ledvin.