GENETIC-HETEROGENEITY OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASEIN ARGENTINA

Autosomal dominant polycystic kidney disease (ADPKD) is an inherited d isorder with genetic heterogeneity. Wp to three loci are involved in t his disease, PKD1 on chromosome 16p13.3, PKD2 on 4q21, and a third loc us of unknown location. Here we report the existence of locus heteroge neity for this disease in the Argentinian population by performing lin kage analysis on 12 families of Caucasian origin. Eleven families show ed linkage to PKD1 and one family showed Linkage to PKD2. Two recombin ants in the latter family placed the locus PKD2 proximal to D4S1563, i re agreement with data recently published on the cloning of this gene. Analysis of clinical data suggests a milder ADPKD phenotype for the P KD2 family.