Autosomal dominant polycystic kidney disease (ADPKD) is a genetically
heterogeneous disorder. A gene defect located on the short arm of chro
mosome 16 is responsible for the disease in roughly 86% of affected Eu
ropean families. Using highly polymorphic microsatellite DNA markers,
we have assigned a second gene for ADPKD to chromosome 4. In eight fam
ilies with clear evidence against linkage to chromosome 16 markers, li
nkage analysis with the markers D4S231 and D4S423, demonstrated a mult
ipoint rod score of 22.42.