Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2)

Genomics. 1997 Aug 15;44(1):131-6. doi: 10.1006/geno.1997.4851.


PKD2, the gene defective in the second form of autosomal dominant polycystic kidney disease (ADPKD), has been identified by positional cloning and found to encode an integral membrane protein with similarity to the gene for the more common form of ADPKD and to calcium channels. We 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. We have designed a series of intronic oligonucleotide primers for amplifying the entire coding sequence from genomic DNA in segments well suited to mutation analysis using conventional screening strategies such as SSCA or heteroduplex analysis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Cloning, Molecular
  • DNA Mutational Analysis
  • DNA Primers
  • Exons / genetics*
  • Humans
  • Introns / genetics
  • Membrane Proteins / chemistry
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Polycystic Kidney, Autosomal Dominant / genetics*
  • RNA Splicing / genetics
  • Restriction Mapping
  • Sequence Analysis, DNA
  • TRPP Cation Channels


  • DNA Primers
  • Membrane Proteins
  • TRPP Cation Channels
  • polycystic kidney disease 2 protein

Associated data

  • GENBANK/AF004859
  • GENBANK/AF004860
  • GENBANK/AF004861
  • GENBANK/AF004862
  • GENBANK/AF004863
  • GENBANK/AF004864
  • GENBANK/AF004865
  • GENBANK/AF004866
  • GENBANK/AF004867
  • GENBANK/AF004868
  • GENBANK/AF004869
  • GENBANK/AF004870
  • GENBANK/AF004871
  • GENBANK/AF004872
  • GENBANK/AF004873
  • GENBANK/U50928