A COMMON POLYMORPHISM IN EXON-46 OF THE HUMAN AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE-1 GENE (PKD1)

Autosomal dominant polycystic kidney disease (ADPKD) is one of the mos t common single gene diseases in humans. We have identified a synonymo us T to C transition polymorphism in exon 46 of the PKD1 gene (12838T- ->C, Pro4209Pro). The polymorphism was present with similar frequencie s in ADPKD patients and unaffected individuals. The heterozygosity, de termined in 89 Italian individuals, was 0.347. The frequency of the ra rer allele was 0.222. This polymorphism is easy to determine as it abo lishes a naturally occurring Ddel restriction site. The availability o f an additional intragenic marker in the PKD1 gene will improve the ac curacy of linkage studies in ADPKD families. (C) 1996 Academic Press L imited