An unstable triplet repeat in a gene related to myotonic muscular dystrophy

Y. H. Fu, A. Pizzuti, R. G. Fenwick, J. King, S. Rajnarayan, P. W. Dunne, J. Dubel, G. A. Nasser, T. Ashizawa, P. De Jong, B. Wieringa, R. Korneluk, M. B. Perryman, H. F. Epstein, C. Thomas Caskey

Research output: Contribution to journalArticlepeer-review

1337 Scopus citations


Synthetic oligonucleotides containing GC-rich triplet sequences were used in a scanning strategy to identify unstable genetic sequences at the myotonic dystrophy (DM) locus. A highly polymorphic GCT repeat was identified and found to be unstable, with an increased number of repeats occurring in DM patients. In the case of severe congenital DM, the paternal triplet allele was inherited unaltered while the maternal, DM-associated allele was unstable. These studies suggest that the mutational mechanism leading to DM is triplet amplification, similar to that occurring in the fragile X syndrome. The triplet repeat sequence is within a gene (to be referred to as myotonin-protein kinase), which has a sequence similar to protein kinases.

Original languageEnglish (US)
Pages (from-to)1256-1258
Number of pages3
Issue number5049
StatePublished - Mar 6 1992

ASJC Scopus subject areas

  • General


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