Polymorphisms in the human autosomal dominant polycystic kidney disease 2 (PKD2) gene.

Abstract Three polymorphisms of the PKD2 (MIM 173910) gene in patients with autosomal dominant polycystic kidney disease are reported: (1) a substitution from ATT (isoleucine) to GTT (valine) at codon 452; (2) a substitution from CGG (arginine) to CAG (glutamine) at codon 848; and (3) a substitution from G to A in intron 4 of the gene. The minor allelic frequencies of codon 452 and intron 4 in the Korean population were estimated to be 0·03 and 0·32, respectively. Although the codon 848 substitution was not observed in 45 unrelated healthy Korean people, the substitution did not cosegregate with the disease phenotype, suggesting that this was a rare, non-deleterious alteration.