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., V., D'Angelo, A.R., L., B., Perugia, G., Gentile, V., L., P., M. P., I., A., N., G., N., M., F.. - In: EUROPEAN UROLOGY. - ISSN 0302-2838. - STAMPA. - 21:1(1992), pp. 57-59. (2ND MEDITERRANEAN CONGRESS OF UROLOGY : MARKERS IN UROLOGY ROME, ITALY 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.
