| Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. | |
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MedLine Citation:
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PMID: 8334699 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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S J Knight; A V Flannery; M C Hirst; L Campbell; Z Christodoulou; S R Phelps; J Pointon; H R Middleton-Price; A Barnicoat; M E Pembrey |
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Publication Detail:
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Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Cell Volume: 74 ISSN: 0092-8674 ISO Abbreviation: Cell Publication Date: 1993 Jul |
Date Detail:
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Created Date: 1993-08-20 Completed Date: 1993-08-20 Revised Date: 2009-09-29 |
Medline Journal Info:
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Nlm Unique ID: 0413066 Medline TA: Cell Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 127-34 Citation Subset: IM |
Affiliation:
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Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, England. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Base Sequence Fragile X Syndrome / genetics* Gene Amplification* Humans Mental Retardation / genetics* Methylation Molecular Sequence Data Pedigree Repetitive Sequences, Nucleic Acid X Chromosome* |
| Grant Support | |
ID/Acronym/Agency:
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//Wellcome Trust |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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