Human genes containing polymorphic trinucleotide repeats

Gregory J. Riggins, Laurie K. Lokey, Jane L. Chastain, Harold A. Leiner, Stephanie L. Sherman, Keith D. Wilkinson, Stephen T. Warren

Research output: Contribution to journalArticlepeer-review

156 Scopus citations


Expansions of trinucleotide repeats within gene transcripts are responsible for fragile X syndrome, myotonic dystrophy and spinal and bulbar muscular atrophy. To identify other human genes with similar features as candidates for triplet repeat expansion mutations, we screened human cDNA libraries with repeat probes and searched databases for transcribed genes with repeats. From both strategies, 40 genes were identified and 14 characterized. Five were found to contain repeats which are highly polymorphic including the N–cadherin, BCR, glutathione–S–transferase and Na+/K+ ATPase (β–subunit) genes. These data demonstrate the occurrence of other human loci which may undergo this novel mechanism of mutagenesis giving rise to genetic disease.

Original languageEnglish (US)
Pages (from-to)186-191
Number of pages6
JournalNature genetics
Issue number3
StatePublished - Nov 1992
Externally publishedYes

ASJC Scopus subject areas

  • Genetics


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