Send to

Choose Destination
Genomics. 1997 Aug 15;44(1):131-6.

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

Author information

Department of Medicine, Albert Einstein College of Medicine, Bronx, New York 10461, USA.


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.

[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center