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

Three polymorphisms of the PKD2 (MIM 173910) gene in patients with autosoma l dominant polycystic kidney disease are reported: (1) a substitution from ATT (isoleucine) to GTT (valine) at codon 452; (2) a substitution from CCC (arginine) to CAG (glutamine) at codon 848; and (3) a substitution from G t o 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, resp ectively. Although the codon 848 substitution was not observed in 45 unrela ted healthy Korean people, the substitution did not cosegregate with the di sease phenotype, suggesting that this was a rare, non-deleterious alteratio n. (C) 1999 Academic Press.