Linkage Analysis in a Family with Dominantly Inherited Torsion Dystonia: Exclusion of the Pro-Opiomelanocortin and Glutamic Acid Decarboxylase Genes and Other Chromosomal Regions Using DNA Polymorphisms
Breakefield X, Bressman S, Kramer P, Ozelius L, Moskowitz C, Tanzi R, Brin M, Hobbs W, Kaufman D, Tobin A, Kidd K, Fahn S, Gusella J. Linkage Analysis in a Family with Dominantly Inherited Torsion Dystonia: Exclusion of the Pro-Opiomelanocortin and Glutamic Acid Decarboxylase Genes and Other Chromosomal Regions Using DNA Polymorphisms. Journal Of Neurogenetics 1986, 3: 159-175. PMID: 3016220, DOI: 10.3109/01677068609106846.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedChildChild, PreschoolChromosome DeletionChromosome MappingCloning, MolecularDNADNA Restriction EnzymesDystonia Musculorum DeformansFemaleGenesGenes, DominantGenetic LinkageGlutamate DecarboxylaseHumansLymphocytesMaleMiddle AgedPedigreePolymorphism, GeneticPro-OpiomelanocortinConceptsLinkage analysisGlutamic acid decarboxylase geneRestriction fragment length polymorphismDecarboxylase geneDNA sequencesMode of inheritanceChromosomal regionsDNA polymorphismsFragment length polymorphismDefective geneLod score methodGenesDNA probesLength polymorphismLymphoblast linesInheritanceDisease statesAutosomal dominant modeGene penetranceSequenceFamilyPolymorphismGenomeAcid decarboxylaseRequisite assumptions