Unstable triplet repeat diseases.
Seven inherited human disorders are now associated with the intragenic expansion of triplet repeat DNA sequences. These repeats demonstrate extreme instability in both germline and somatic tissue, accounting for the unusual genetic inheritance patterns and symptom variability associated with these diseases.
Monckton
D G
DG
Department of Molecular and Human Genetics, Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Tex 77030.
Caskey
C T
CT
D001927:Brain Diseases / Q000235:genetics*; D005600:Fragile X Syndrome / Q000235:genetics; D006801:Humans; D006816:Huntington Disease / Q000235:genetics; D009133:Muscular Atrophy / Q000235:genetics; D009223:Myotonic Dystrophy / Q000235:genetics; D009468:Neuromuscular Diseases / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013132:Spinocerebellar Degenerations / Q000235:genetics