The linkage between the locus for the dominant form of adult polycystic kidney disease (APCKD) and a polymorphic DNA locus (3'HVR) of the short arm of chromosome 16, identified in the northern European population, has allowed the presymptomatic detection of this disease by using the DNA linkage analysis. This APCKD locus is the only one localized on the short arm of chromosome 16. At the end of 1985 we initiated to investigate if the association exists also in the southern European population and in that of the delta of Po river. We present data on RFLPs analysis with two polimorphic markers localized near the APCKD locus in members from 18 APCKD families. The results of DNA analysis were compared with ultrasonographic and with renal tubular function data.
Presymptomatic diagnosis of APCKD in high risk subjects from Northern Italy : comparison of DNA analysis, renal sonography and clinical aspects
DEL SENNO, Laura;MAESTRI, Iva;PIVA, Maria Roberta;HANAU, Stefania;LIMONE, Gianluca;FARINELLI, Alberto;A. Storari;DE PAOLI VITALI, Ermanno
1989
Abstract
The linkage between the locus for the dominant form of adult polycystic kidney disease (APCKD) and a polymorphic DNA locus (3'HVR) of the short arm of chromosome 16, identified in the northern European population, has allowed the presymptomatic detection of this disease by using the DNA linkage analysis. This APCKD locus is the only one localized on the short arm of chromosome 16. At the end of 1985 we initiated to investigate if the association exists also in the southern European population and in that of the delta of Po river. We present data on RFLPs analysis with two polimorphic markers localized near the APCKD locus in members from 18 APCKD families. The results of DNA analysis were compared with ultrasonographic and with renal tubular function data.I documenti in SFERA sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
