LINKAGE DISEQUILIBRIUM IN THE REGION OF THE AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE GENE (PKD1)

The gene for autosomal dominant polycystic kidney disease (PKD1) is lo cated on chromosome 16p, between the flanking markers D16S84 and D16S1 25 (26.6prox). This region is 750 kb long and has been cloned. We have looked at the association of 10 polymorphic markers from the region, with the disease and with each other. This was done in a set of Scotti sh families that had previously shown association with D16S94, a marke r proximal to the PKD1 region. We report significant association betwe en two CA repeat markers and the disease but have not found evidence f or a single founder haplotype in these families, indicating the presen ce of several mutations in this population. Our results favor a locati on of the PKD1 gene in the proximal part of the candidate region.