DNA markers in diagnosis of adult dominant polycystic kidney disease

L. Venezianoa, A. R. D'Angelo, L. Burrai, G. Perugia, V. Gentile, L. Potenza, M. P. Iampieri, A. Novelletto, G. Novelli, M. Frontali

Research output: Contribution to journalArticlepeer-review


We report the results of a biological and molecular study carried out on 11 Italian families, with a total of 111 individuals in which adult dominant polycystic kidney disease segregates. A restriction fragment length polymorphism analysis was performed. Two families have shown a genetic heterogeneity even if not phenotypically different from the other ones: they resulted unlinked to 16p markers. A prenatal diagnosis has been performed in a family of the linked type.

Original languageEnglish
Pages (from-to)57-59
Number of pages3
JournalEuropean Urology
Issue numberSUPPL. 1
Publication statusPublished - 1992


  • Autosomal-dominant polycystic kidney disease
  • DNA
  • Genetic heterogeneity
  • Presymptomatic diagnosis

ASJC Scopus subject areas

  • Urology


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