Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene

Mov Disord. 2004 Jul;19(7):845-847. doi: 10.1002/mds.20095.

Abstract

By examining two previously described families with rapid-onset dystonia parkinsonism, we have identified a key recombination event that places the disease locus (DYT12) into a 5.9 cM interval flanked by markers D19S224 and D19S900. Evaluation of a positional candidate gene, the glutamate receptor subunit GRIK5, revealed no mutations.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chromosomes, Human, Pair 19 / genetics*
  • DNA Primers / genetics
  • Dystonia / genetics*
  • Exons / genetics
  • Gene Expression
  • Genetic Linkage
  • Genetic Markers
  • Genotype
  • Humans
  • Introns / genetics
  • Parkinsonian Disorders / genetics*
  • Point Mutation / genetics
  • Polymerase Chain Reaction
  • RNA, Messenger / genetics
  • Receptor, Metabotropic Glutamate 5
  • Receptors, Metabotropic Glutamate / genetics*

Substances

  • DNA Primers
  • Genetic Markers
  • RNA, Messenger
  • Receptor, Metabotropic Glutamate 5
  • Receptors, Metabotropic Glutamate