Triplet repeats and human disease

Research output: Contribution to journalReview article

5 Scopus citations

Abstract

In recent years a new mechanism of genetic disease has been discovered in which triplet DNA sequences (trinucleotides) expand either to interrupt or to compromise a gene. So far, ten genetic loci have been identified in which this event takes place. The presence of these expansions, sometimes containing thousands of repeated trinucleotides, provides a clue as to how processing of DNA and RNA may sometimes go awry. How this expansion in a single allele may exert a dominant effect and how the extent of the expansion increases the severity of the disease remain a mystery.

Original languageEnglish (US)
Pages (from-to)65-69
Number of pages5
JournalMolecular Medicine Today
Volume2
Issue number2
DOIs
StatePublished - Feb 1996
Externally publishedYes

ASJC Scopus subject areas

  • Molecular Medicine
  • Genetics

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