Cell. 1993 Jul 16;74(1):127-34.

Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.

Knight SJ, Flannery AV, Hirst MC, Campbell L, Christodoulou Z, Phelps SR, Pointon J, Middleton-Price HR, Barnicoat A, Pembrey ME, et al.

Source

Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, England.

Abstract

We have cloned the fragile site FRAXE and demonstrate that individuals with this fragile site possess amplifications of a GCC repeat adjacent to a CpG island in Xq28 of the human X chromosome. Normal individuals have 6-25 copies of the GCC repeat, whereas mentally retarded, FRAXE-positive individuals have > 200 copies and also have methylation at the CpG island. This situation is similar to that seen at the FRAXA locus and is another example in which a trinucleotide repeat expansion is associated with a human genetic disorder. In contrast with the fragile X syndrome, the GCC repeat can expand or contract and is equally unstable when passed through the male or female line. These results also have implications for the understanding of chromosome fragility.

PMID:: 8334699; [PubMed - indexed for MEDLINE]

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Wellcome Trust/United Kingdom

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