CHARACTERIZATION OF THE EXON STRUCTURE OF THE POLYCYSTIC KIDNEY-DISEASE-2 GENE (PKD2)

PKD2, the gene defective in the second form of autosomal dominant poly cystic kidney disease (ADPKD), has been identified by positional cloni ng and found to encode an integral membrane protein with similarity to the gene for the more common form of ADPKD and to calcium channels. W e have determined the exon-intron structure of the PKD2 gene. PKD2 is encoded in at least 15 exons with the translation start site in exon 1 . All the splice acceptor and donor sites conform to the AG/GT rule. W e have designed a series of intronic oligonucleotide primers for ampli fying the entire coding sequence from genomic DNA in segments well sui ted to mutation analysis using conventional screening strategies such as SSCA or heteroduplex analysis. (C) 1997 Academic Press.