Vnitr Lek 1993, 39(10):942-945

[DNA diagnosis in families with autosomal dominant hereditary polycystic kidney disease].

J Kapras, J Stekrová, J Zidovská, A Horínek, I Mazura, M Merta, R Brdicka: Oddĕlení lékarské genetiky FN 2 s FP, Praha.

Klíčová slova: Adult; DNA, analysis, ; Female; Genetic Markers; Humans; Polycystic Kidney, Autosomal Dominant, diagnosis, ; Polymorphism, Restriction Fragment Length; Pregnancy; Prenatal Diagnosis

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.

Keywords: Adult; DNA /analysis/; Female; Genetic Markers; Humans; Polycystic Kidney, Autosomal Dominant /diagnosis/; Polymorphism, Restriction Fragment Length; Pregnancy; Prenatal Diagnosis

Zveřejněno: 1. říjen 1993 Zobrazit citaci

Kapras J, Stekrová J, Zidovská J, Horínek A, Mazura I, Merta M, Brdicka R. [DNA diagnosis in families with autosomal dominant hereditary polycystic kidney disease]. Vnitr Lek. 1993;39(10):942-945.

Sdílet...

Stáhnout citaci