Linked Life Data

8334699

Source:http://linkedlifedata.com/resource/pubmed/id/8334699

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1993-8-20
pubmed:abstractText
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.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0092-8674
pubmed:author
pubmed:issnType
Print
pubmed:day
16
pubmed:volume
74
pubmed:owner
NLM
pubmed:authorsComplete
N
pubmed:pagination
127-34
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1993
pubmed:articleTitle
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.
pubmed:affiliation
Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, England.
pubmed:publicationType
Journal Article, Comparative Study, Research Support, Non-U.S. Gov't