Human Genetics

, Volume 100, Issue 3–4, pp 339–344 | Cite as

CAG repeat analyses in frozen and formalin-fixed tissues following primer extension preamplification for evaluation of mitotic instability of expanded SCA1 alleles

  • C. Zühlke
  • Yorck Hellenbroich
  • Franziska Schaaff
  • Ulrike Gehlken
  • Karl Wessel
  • Thomas Schubert
  • Jorge Cervos-Navarro
  • H. Pickartz
  • Eberhard Schwinger
Original investigation

Abstract

Neurodegenerative disorders, including spinocerebellar ataxias (SCA), Huntington disease (HD) and dentatorubral-pallidoluysian atrophy (DRPLA), are associated with unstable CAG repeats. To investigate the mitotic stability of the repetitive element in the genes for SCA1, SCA3, HD, and DRPLA we extracted DNA from up to 13 tissue samples from four deceased individuals with progressive neurological disorders and neuropathological signs. Due to the formalin fixation of some tissues the genomic DNA was highly degraded and unsuitable for amplification of fragments longer than 150 bp. After size selection and primer extension preamplification, specific analyses could be performed even for expanded alleles. In all four patients the SCA1 mutation could be demonstrated, in one case with remarkable somatic heterogeneity of the elongated allele, whereas alleles of the normal range were stable in all tissues examined.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • C. Zühlke
    • 1
  • Yorck Hellenbroich
    • 1
  • Franziska Schaaff
    • 1
  • Ulrike Gehlken
    • 1
  • Karl Wessel
    • 2
  • Thomas Schubert
    • 3
  • Jorge Cervos-Navarro
    • 3
  • H. Pickartz
    • 4
  • Eberhard Schwinger
    • 1
  1. 1.Institut für Humangenetik, Ratzeburger Allee 160, D-23538 Lübeck, Germany Tel.: +49-451-500-2622; Fax: +49-451-500-4187DE
  2. 2.Klinik für Neurologie der Medizinischen Universität, D-23538 Lübeck, GermanyDE
  3. 3.Institut für Neuropathologie des Universitätsklinikum Benjamin Franklin, D-12200 Berlin, GermanyDE
  4. 4.Institut für Pathologie des Krankenhauses Spandau, D-13568 Berlin, GermanyDE

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