Neurogenetics

, Volume 1, Issue 4, pp 259–265 | Cite as

The human small conductance calcium-regulated potassium channel gene (hSKCa3) contains two CAG repeats in exon 1, is on chromosome 1q21.3, and shows a possible association with schizophrenia

  • Oliver Wittekindt
  • Anna Jauch
  • Edgar Burgert
  • Lars Schärer
  • Heidi Holtgreve-Grez
  • Gael Yvert
  • Georges Imbert
  • Jürgen Zimmer
  • Margret R. Hoehe
  • Jean-Paul Macher
  • Pierre Chiaroni
  • Dietrich van Calker
  • Marc-Antoine Crocq
  • D. J. Morris-Rosendahl
Original article

ABSTRACT

Mutations in various ion channel genes are responsible for neuromuscular and other neurological disorders. We have previously identified the human small conductance calcium-activated potassium channel gene (hSKCa3) which has two tandemly arranged CAG repeats in its 5' region. Here we have isolated the first genomic clones containing the gene and have shown that both repeats are in exon 1. Homology to the previously localized sequence tagged site G16005 indicated that the gene may be on chromosome 22q, however using polymerase chain reaction amplification of somatic cell hybrid DNA and fluorescence in situ hybridization of two P1 artificial chromosome clones, we physically localized the gene to chromosome 1q21.3. We previously found an association between the highly polymorphic second (more 3′) CAG repeat and schizophrenia in 98 patients and 117 controls. We have now genotyped an additional 19 patients with schizophrenia and have performed statistical analyses on the entire group of patients and controls to investigate the possible effect of age of onset, family history, and gender of the patients on the observed association. None of these factors were found to influence the results. Both CAG repeats have been typed in 86 bipolar I disorder patients, and no significant difference in allele distribution was observed between our bipolar disorder patients and controls.

Key words Potassium channel gene CAG repeat Human chromosome 1q21.3 Schizophrenia Bipolar disorder 

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Copyright information

© Springer-Verlag Berlin Heidelberg 1998

Authors and Affiliations

  • Oliver Wittekindt
    • 1
  • Anna Jauch
    • 2
  • Edgar Burgert
    • 1
  • Lars Schärer
    • 3
  • Heidi Holtgreve-Grez
    • 2
  • Gael Yvert
    • 4
  • Georges Imbert
    • 4
  • Jürgen Zimmer
    • 1
  • Margret R. Hoehe
    • 5
  • Jean-Paul Macher
    • 6
  • Pierre Chiaroni
    • 7
  • Dietrich van Calker
    • 3
  • Marc-Antoine Crocq
    • 6
  • D. J. Morris-Rosendahl
    • 1
  1. 1.Institut für Humangenetik and Anthropologie, Universität Freiburg, Breisacherstrasse 33, D-79106, Freiburg, GermanyDE
  2. 2.Insitut für Humangenetik, Ruprecht-Karls-Universität Heidelberg, Heidelberg, GermanyDE
  3. 3.Pychiatrische Klinik, Universität Freiburg, Freiburg, GermanyDE
  4. 4.Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, FranceFR
  5. 5.Max-Delbrück Centre for Molecular Medicine, Berlin, GermanyDE
  6. 6.Forenap, Centre Hospitalier, Rouffach, FranceFR
  7. 7.Hopital de la Timone, Marseille, FranceFR

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