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.
|Number of pages||3|
|Issue number||SUPPL. 1|
|Publication status||Published - 1992|
- Autosomal-dominant polycystic kidney disease
- Genetic heterogeneity
- Presymptomatic diagnosis
ASJC Scopus subject areas