Unstable trinucleotide repeats and the diagnosis of neurodegenerative disease.
Human genes containing unstable triplet repeats are associated with several neuropsychiatric diseases. These diseases all show a marked variation in clinical symptoms and genetic anticipation. The molecular understanding of these diseases provides the diagnostic laboratory with the capability to test directly whether an individual's DNA contains the disease-causing mutation, either as a confirmation of a clinical diagnosis or presymptomatically.
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Department of Laboatory Medicine and Pathology, University of Minnesota, Minneapolis 55455.
D010244:Bulbar Palsy, Progressive / Q000235:genetics; D004247:DNA / Q000737:chemistry*; D005600:Fragile X Syndrome / Q000235:genetics; D006801:Humans; D006816:Huntington Disease / Q000235:genetics; D009134:Muscular Atrophy, Spinal / Q000235:genetics; D009223:Myotonic Dystrophy / Q000235:genetics; D009422:Nervous System Diseases / Q000235:genetics*; D009841:Oligonucleotides / Q000737:chemistry; D012091:Repetitive Sequences, Nucleic Acid / Q000502:physiology*; D013132:Spinocerebellar Degenerations / Q000235:genetics
D009841:Oligonucleotides; D004247:DNA