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Human genes containing polymorphic trinucleotide repeats

Nature Genetics volume 2, pages 186–191 (1992)Cite this article

A Correction to this article was published on 01 March 1993

Abstract

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.

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Authors and Affiliations

  1. Howard Hughes Medical Institute, 4035 Rollins Research Center, Division of Medical Genetics, Emory University School of Medicine, Atlanta, Georgia, 30322, USA

    Gregory J. Riggins, Laurie K. Lokey, Jane L. Chastain, Harold A. Leiner & Stephen T. Warren

  2. Department of Biochemistry, Division of Medical Genetics, Emory University School of Medicine, Atlanta, Georgia, 30322, USA

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

  3. Department of Pediatrics, Division of Medical Genetics, Emory University School of Medicine, Atlanta, Georgia, 30322, USA

    Stephanie L. Sherman & Stephen T. Warren

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Riggins, G., Lokey, L., Chastain, J. et al. Human genes containing polymorphic trinucleotide repeats. Nat Genet 2, 186–191 (1992). https://doi.org/10.1038/ng1192-186

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