DNA markers in diagnosis of adult dominant polycystic kidney disease.

Veneziano, L; D'Angelo, A R; Burrai, L; Perugia, G; Gentile, V; Potenza, L; Iampieri, M P; Novelletto, A et al. · Eur Urol · 1992

case_series · Level IV

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Abstract

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.

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