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

Tomohito Hayashi, Toshio Mochizuki, David M. Reynolds, Guanqing Wu, Yiqiang Cai, Stefan Somlo

Research output: Contribution to journalArticle

79 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)131-136
Number of pages6
JournalGenomics
Volume44
Issue number1
DOIs
StatePublished - Aug 15 1997

ASJC Scopus subject areas

  • Genetics

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