F329L POLYMORPHISM IN THE HUMAN PAX8 GENE

We screened patients with juvenile nephronophthisis for mutations of t he tightly linked PAX8 gene. No disease-associated mutations were foun d, hut we identified the first known human PAX8 polymorphism, F329L, i n 1 of 15 patients and 2 of 20 controls. This polymorphic variant invo lves a conservative amino acid change (phenylalanine to leucine) in th e C-terminal portion of the PAX8 protein. (C) 1997 Wiley-Liss, Inc.