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.
DNA markers in diagnosis of adult dominant polycystic kidney disease / L., Veneziano; D'Angelo, Anna Rita; L., Burrai; Perugia, Giacomo; Gentile, Vincenzo; L., Potenza; M. P., Iampieri; A., Novelletto; G., Novelli; M., Frontali. - In: EUROPEAN UROLOGY. - ISSN 0302-2838. - STAMPA. - 21:1(1992), pp. 57-59. (Intervento presentato al convegno 2ND MEDITERRANEAN CONGRESS OF UROLOGY : MARKERS IN UROLOGY tenutosi a ROME, ITALY nel JUL 03-06, 1991).
DNA markers in diagnosis of adult dominant polycystic kidney disease.
D'ANGELO, Anna Rita;PERUGIA, Giacomo;GENTILE, Vincenzo;
1992
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
