Mutation detection in the repeated part of the PKD1 gene

Am J Hum Genet. 1997 Nov;61(5):1044-52. doi: 10.1086/301600.


The principle cause of one of the most prevalent genetic disorders, autosomal dominant polycystic kidney disease, involves mutations in the PKD1 gene. However, since its identification in 1994, only 27 mutations have been published. Detection of mutations has been complicated because the greater part of the gene lies within a genomic region that is reiterated several times at another locus on chromosome 16. Amplification of DNA fragments in the repeated part of the PKD1 gene will lead to coamplification of highly homologous fragments derived from this other locus. These additional fragments severely hamper point-mutation detection. None of the point mutations published to date are located in the repeated part of the PKD1 gene. However, we have reduced the problems posed by the strong homology, by using the protein-truncation test, and we have identified eight novel mutations, seven of which are located in the repeated part of the PKD1 gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 16 / genetics
  • DNA Mutational Analysis
  • DNA Primers / chemistry
  • DNA Primers / genetics
  • Electrophoresis, Polyacrylamide Gel
  • Genetic Markers / genetics
  • Haplotypes / genetics
  • Humans
  • Pedigree
  • Polycystic Kidney, Autosomal Dominant / genetics*
  • Polymerase Chain Reaction
  • Protein Biosynthesis / genetics
  • Proteins / genetics*
  • Repetitive Sequences, Nucleic Acid / genetics
  • Sequence Deletion / genetics
  • TRPP Cation Channels


  • DNA Primers
  • Genetic Markers
  • Proteins
  • TRPP Cation Channels
  • polycystic kidney disease 1 protein