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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
8
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pubmed:dateCreated |
2006-7-28
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pubmed:abstractText |
Fragile X syndrome (FXS), the most common cause of inherited mental impairment, is most commonly related to hyperexpansion and hypermethylation of a polymorphic CGG trinucleotide repeat in the 5' untranslated region of the FMR1 gene. Southern blot analysis is the most commonly used method for molecular diagnosis of FXS. We describe a simplified strategy based on fluorescent methylation-specific PCR (ms-PCR) and GeneScan analysis for molecular diagnosis of fragile X syndrome.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
0009-9147
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
52
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1492-500
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:16793928-DNA Methylation,
pubmed-meshheading:16793928-Electrophoresis, Capillary,
pubmed-meshheading:16793928-Female,
pubmed-meshheading:16793928-Fluorescent Dyes,
pubmed-meshheading:16793928-Fragile X Mental Retardation Protein,
pubmed-meshheading:16793928-Fragile X Syndrome,
pubmed-meshheading:16793928-Humans,
pubmed-meshheading:16793928-Indicators and Reagents,
pubmed-meshheading:16793928-Male,
pubmed-meshheading:16793928-Molecular Diagnostic Techniques,
pubmed-meshheading:16793928-Mutation,
pubmed-meshheading:16793928-Polymerase Chain Reaction,
pubmed-meshheading:16793928-Sulfites
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pubmed:year |
2006
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pubmed:articleTitle |
Simplified molecular diagnosis of fragile X syndrome by fluorescent methylation-specific PCR and GeneScan analysis.
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pubmed:affiliation |
Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, and Children's Medical Institute, National University Hospital, Singapore. zhouyouyou@fudan.edu.cn
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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