A common polymorphism in exon 46 of the human autosomal dominant polycystic kidney disease 1 gene (PKD1)

Elena Bresin, Sandro Rossetti, Sabine Englisch, Stefano Corrà, Pier Franco Pignatti, Alberto E. Turco

Research output: Contribution to journalArticlepeer-review

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common single gene diseases in humans. We have identified a synonymous T to C transition polymorphism in exon 46 of the PKD1 gene (12838T→C, Pro4209Pro). The polymorphism was present with similar frequencies in ADPKD patients and unaffected individuals. The heterozygosity, determined in 89 Italian individuals, was 0.347. The frequency of the rarer allele was 0.222. This polymorphism is easy to determine as it abolishes a naturally occurring Ddel restriction site. The availability of an additional intragenic marker in the PKD1 gene will improve the accuracy of linkage studies in ADPKD families.

Original languageEnglish
Pages (from-to)463-465
Number of pages3
JournalMolecular and Cellular Probes
Volume10
Issue number6
DOIs
Publication statusPublished - Dec 1996

Keywords

  • ADPKD
  • PCR
  • PKD1 gene
  • Polymorphism

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology

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