The gene for familial dystonia with myoclonic jerks responsive to alcohol is not located on the distal end of 9q

J. Wahlström, L. Ozelius, P. Kramer, M. Kyllerman, D. Schuback, L. Forsgren, G. Holmgren, U. Drugge, G. Sanner, S. Fahn, X. O. Breakefield

Research output: Contribution to journalArticle

12 Scopus citations

Abstract

A gene (DYT1) for susceptibility to early‐onset torsion dystonia in Ashkenazi Jewish and Gentile kindreds is situated on chromosome 9q32‐q34 in a 6–7 cM span between markers AK1 and ASS. To determine whether transmission of familial dystonia with myoclonic jerks responsive to alcohol was consistent with a gene in this region, we studied the 37 members of a Swedish family, of whom 20 were so affected. A lod score of < −2.00 from a two‐point linkage analysis with six DNA markers covering a 30 cM span from D9S26 to D9S10 that included the region of the DYT gene indicated that this gene is not located in this region, and that two or more autosomal loci are responsible for hereditary dystonia in humans.

Original languageEnglish (US)
Pages (from-to)88-92
Number of pages5
JournalClinical Genetics
Volume45
Issue number2
DOIs
StatePublished - Feb 1994

Keywords

  • chromosome 9
  • linkage analysis
  • torsion dystonia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Wahlström, J., Ozelius, L., Kramer, P., Kyllerman, M., Schuback, D., Forsgren, L., Holmgren, G., Drugge, U., Sanner, G., Fahn, S., & Breakefield, X. O. (1994). The gene for familial dystonia with myoclonic jerks responsive to alcohol is not located on the distal end of 9q. Clinical Genetics, 45(2), 88-92. https://doi.org/10.1111/j.1399-0004.1994.tb04000.x