S. Dealmeida et al., AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE - EVIDENCE FOR THE EXISTENCE OF A 3RD LOCUS IN A PORTUGUESE FAMILY, Human genetics, 96(1), 1995, pp. 83-88
Autosomal dominant polycystic kidney disease is characterized by clini
cal and genetic heterogeneity. Two loci implicated in the disease have
previously been mapped (PKD1 on chromosome 16 and PKD2 on chromosome
4). By two point and multipoint linkage analysis, negative lod scores
have been found for both chromosome 16 and chromosome 4 markers in a l
arge Portuguese family, indicating that a third PKD locus is involved
in the development of the disease.