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Human Genetics

, Volume 93, Issue 1, pp 47–52 | Cite as

Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis

  • Xue-Fan Gu
  • Felix de Rooij
  • Gardi Voortman
  • Kor Te Velde
  • Jean-Charles Deybach
  • Yves Nordmann
  • Bernard Grandchamp
Original Investigations

Abstract

Acute intermittent porphyria (AIP) is an autosomal dominant disease characterized by mutations of the gene coding for porphobilinogen deaminase (PBGD). Until now, sixteen different mutations have been described. In an effort to investigate further the molecular epidemiology of AIP, we have undertaken a systematic study of different exons of the PBGD gene from a large number of unrelated patients. Here, we have examined seven of the fifteen exons of the gene from 43 unrelated Dutch and French AIP patients using denaturing gradient gel electrophoresis after polymerase chain reaction amplification. Eleven new mutations were found, accounting for the enzymatic defect in about half of the patients. This study further documents the molecular heterogeneity of the mutations responsible for AIP and describes an efficient strategy to detect the mutations in patients with previously unknown abnormalities.

Keywords

Polymerase Chain Reaction Metabolic Disease Systematic Study Polymerase Chain Reaction Amplification Reaction Amplification 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 1994

Authors and Affiliations

  • Xue-Fan Gu
    • 1
  • Felix de Rooij
    • 2
  • Gardi Voortman
    • 2
  • Kor Te Velde
    • 3
  • Jean-Charles Deybach
    • 4
  • Yves Nordmann
    • 4
  • Bernard Grandchamp
    • 1
  1. 1.Faculté Xavier BichatLaboratoire de Génétique MoléculaireParisFrance
  2. 2.Department of Internal Medicine IIUniversity Hospital DijkzigtRotterdamThe Netherlands
  3. 3.Department of Internal MedicineSt. Geertruiden HospitalDeventerThe Netherlands
  4. 4.Laboratoire de Biochimie, Hôpital Louis MourierColombesFrance

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