Trinucleotide repeats and genome variation.
The recent cloning of several disease genes has identified the instability of trinucleotide repeats as a fundamental mechanism for variation within the human genome. This mutation mechanism explains the unique inheritance characteristics of the diseases it causes, and there is a significant potential that this mechanism is involved in the pathogenesis of other, as yet uncharacterized, genetic diseases.
Kuhl
D P
DP
Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030.
Caskey
C T
CT
D030342:Genetic Diseases, Inborn / Q000235:genetics; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D012091:Repetitive Sequences, Nucleic Acid