Human genes containing polymorphic trinucleotide repeats
- 1 November 1992
- journal article
- research article
- Published by Springer Science and Business Media LLC in Nature Genetics
- Vol. 2 (3), 186-191
- https://doi.org/10.1038/ng1192-186
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.Keywords
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