Linkage study of the dopamine D5 receptor gene and Gilles de la Tourette syndrome

Am J Med Genet. 1997 Feb 21;74(1):58-61.

Abstract

A defect in the dopamine system has been hypothesized as the etiological defect in Gilles de la Tourette syndrome (TS). In this report, we test the hypothesis that the dopamine D5 receptor locus (DRD5) is linked to the genetic susceptibility to TS in five families studied in Canada. We tested for linkage to the dopamine D5 receptor gene using a microsatellite polymorphism located in the same cosmid clone. Using an autosomal dominant model with reduced penetrance, we were able to exclude linkage in four of the five families for the TS and chronic multiple tics (CMT) phenotype. Also, no evidence for linkage was found using nonparametric methods in all five families.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Canada
  • Female
  • Genes, Dominant
  • Genetic Linkage*
  • Genotype
  • Humans
  • Lod Score
  • Male
  • Microsatellite Repeats
  • Pedigree
  • Phenotype
  • Polymorphism, Genetic
  • Receptors, Dopamine D1 / genetics*
  • Receptors, Dopamine D5
  • Software
  • Tic Disorders / genetics
  • Tic Disorders / metabolism
  • Tourette Syndrome / genetics*
  • Tourette Syndrome / metabolism

Substances

  • DRD5 protein, human
  • Receptors, Dopamine D1
  • Receptors, Dopamine D5