Identification of two novel polymorphisms and a rare deletion variant in the human dopamine D4 receptor gene

S. Cichon, M. M. Nöthen, M. Catalano, D. Di Bella, W. Maier, D. Lichtermann, J. Minges, M. Albus, M. Borrmann, E. Franzek, G. Stöber, B. Weigelt, J. Körner, M. Rietschel, P. Propping

Research output: Contribution to journalArticlepeer-review

Abstract

We report two novel polymorphisms and a rare deletion variant in the human dopamine D4 receptor gene. The two polymorphisms are characterized by single base pair substitutions, namely a G→C transversion changing codon 11 from GGG (encoding Gly) to CGG (encoding Arg) and a C→T transition in position −11 upstream from the start codon. The Arg11 variant occurs at a frequency of about 1% and the C→T transition at a frequency of about 7% in German control subjects (n= 148). Allele frequencies observed in patients suffering from schizophrenia (n = 256) and bipolar affective disorder (n = 99) were similar. The deletion variant is characterized by a 21 bp deletion affecting codons 36 to 42 coding for amino acids Ala-Ala-Leu-Val-Gly-Gly-Val located in the first transmembrane domain of the dopamine D4 receptor. The mutation was identified in a single individual suffering from obsessive-compulsive disorder and panic disorder. We were unable to detect the deletion in patients with schizophrenia and bipolar affective disorder, nor in healthy controls.

Original languageEnglish
Pages (from-to)97-103
Number of pages7
JournalPsychiatric Genetics
Volume5
Issue number3
Publication statusPublished - 1995

Keywords

  • Association analysis
  • Bipolar affective disorder
  • Dopamine D4 receptor
  • Mutation
  • Obsessive-compulsive disorder
  • Panic disorder
  • Polymorphism
  • Schizophrenia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Psychiatry and Mental health
  • Biological Psychiatry
  • Neuroscience(all)

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