Mutation detection for exons 2 to 10 of the polycystic kidney disease 1 (PKD1)-gene by DGGE

Eur J Hum Genet. 2001 Dec;9(12):957-60. doi: 10.1038/sj.ejhg.5200756.


The PKD1-gene encodes a 14 kb transcript spanning a 50 kb genomic interval. Two-thirds of the gene is reiterated at another locus on the same chromosome. Using Long Range PCR with primers in intron 1 and exon 11, 6.8 kb PKD1 specific fragments were generated on genomic DNA. These products were used as templates for nested PCR's to screen exons 2-10 by Denaturing Gradient Gel Electrophoresis (DGGE). Upon analysis of 36 patients, a total of 11 different sequence variants were observed: A nonsense mutation in exon 2, a frameshift mutation in exon 8 and furthermore, two amino acid changes, two silent polymorphisms and five intronic variants.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Electrophoresis
  • Exons / genetics
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Polycystic Kidney, Autosomal Dominant / genetics*
  • Proteins / genetics*
  • TRPP Cation Channels


  • Proteins
  • TRPP Cation Channels
  • polycystic kidney disease 1 protein