Linked Life Data

19806593

Source:http://linkedlifedata.com/resource/pubmed/id/19806593

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PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2009-10-6
pubmed:abstractText
The gene responsible for Fragile X syndrome, fragile X mental retardation-1 (FMR1), contains an unstable sequence of CGG trinucleotide repeats in its promoter region. Expansions of >200 trinucleotide repeats are considered full mutations and typically lead to abnormal methylation of the region resulting in loss of FMR1 expression. Males with loss of FMR1 protein are expected to be affected by Fragile X syndrome while females may or may not clinically manifest features of the condition. The protocols in this unit outline the complementary use of polymerase chain reaction (PCR) and methylation-sensitive Southern blot hybridization to accurately measure trinucleotide repeat size and methylation status. These protocols are also used to evaluate CGG repeat size in two adult-onset conditions known for their association with FMR1 premutation alleles, Fragile X Tremor/Ataxia (FXTAS) syndrome and Premature Ovarian Failure (POF).
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
1934-8258
pubmed:author
pubmed:copyrightInfo
(c) 2009 by John Wiley & Sons, Inc.
pubmed:issnType
Electronic
pubmed:volume
Chapter 9
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
Unit 9.5
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Molecular analysis of Fragile X syndrome.
pubmed:affiliation
Greenwood Genetic Center, Greenwood, South Carolina, USA.
pubmed:publicationType
Journal Article