| Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap. | |
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MedLine Citation:
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PMID: 8023854 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We have recently shown that the expression of the FRAXE fragile site in Xq28 is associated with the expansion of a GCC trinucleotide repeat. In the families studied, FRAXE expression is also associated with mild mental handicap. Here we present data on families that previously had been diagnosed as having the fragile X syndrome but that later were found to be negative for trinucleotide repeat expansion at the FRAXA locus. In these families we demonstrate the presence of a GCC trinucleotide repeat expansion at the FRAXE locus. Studies of the FRAXE locus of normal individuals show that they have 6-25 copies of the repeat, whereas affected individuals have > 200 copies. As in the fragile X syndrome, the amplified CpG residues are methylated in affected males. |
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Authors:
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S J Knight; M A Voelckel; M C Hirst; A V Flannery; A Moncla; K E Davies |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: American journal of human genetics Volume: 55 ISSN: 0002-9297 ISO Abbreviation: Am. J. Hum. Genet. Publication Date: 1994 Jul |
Date Detail:
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Created Date: 1994-07-29 Completed Date: 1994-07-29 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 0370475 Medline TA: Am J Hum Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 81-6 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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DNA
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genetics Dinucleoside Phosphates / genetics Down Syndrome / complications Female Fragile X Syndrome / complications, genetics*, pathology Humans Male Pedigree Phenotype Repetitive Sequences, Nucleic Acid* Restriction Mapping |
| Grant Support | |
ID/Acronym/Agency:
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//Wellcome Trust |
| Chemical | |
Reg. No./Substance:
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0/Dinucleoside Phosphates; 2382-65-2/cytidylyl-3'-5'-guanosine; 9007-49-2/DNA |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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