|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0016667,
umls-concept:C0026882,
umls-concept:C0027617,
umls-concept:C0031809,
umls-concept:C0205103,
umls-concept:C0205307,
umls-concept:C0205556,
umls-concept:C0282537,
umls-concept:C0439750,
umls-concept:C0449438,
umls-concept:C0560175,
umls-concept:C1414649,
umls-concept:C1522384,
umls-concept:C1706209,
umls-concept:C1742737
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|
pubmed:issue |
3
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|
pubmed:dateCreated |
2010-11-18
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|
pubmed:abstractText |
Fragile X syndrome is caused by expansion and subsequent methylation of a CGG trinucleotide repeat in the FMR1 5'-untranslated region. Southern blot analysis is typically required to determine expansion size for triplet repeat lengths >200. We describe a triplet-primed polymerase chain reaction-based method using automated capillary electrophoresis detection for qualitative assessment of expanded CGG repeats.
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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 |
Mar
|
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pubmed:issn |
1530-0366
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|
pubmed:author |
|
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pubmed:issnType |
Electronic
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pubmed:volume |
12
|
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pubmed:owner |
NLM
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|
pubmed:authorsComplete |
Y
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pubmed:pagination |
162-73
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pubmed:meshHeading |
pubmed-meshheading:20168238-5' Untranslated Regions,
pubmed-meshheading:20168238-Blotting, Southern,
pubmed-meshheading:20168238-DNA,
pubmed-meshheading:20168238-Electrophoresis, Capillary,
pubmed-meshheading:20168238-Female,
pubmed-meshheading:20168238-Fragile X Mental Retardation Protein,
pubmed-meshheading:20168238-Fragile X Syndrome,
pubmed-meshheading:20168238-Genetic Testing,
pubmed-meshheading:20168238-Heterozygote,
pubmed-meshheading:20168238-Humans,
pubmed-meshheading:20168238-Infant, Newborn,
pubmed-meshheading:20168238-Male,
pubmed-meshheading:20168238-Mosaicism,
pubmed-meshheading:20168238-Mutation,
pubmed-meshheading:20168238-Neonatal Screening,
pubmed-meshheading:20168238-Polymerase Chain Reaction,
pubmed-meshheading:20168238-Technology Assessment, Biomedical,
pubmed-meshheading:20168238-Trinucleotide Repeats
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pubmed:year |
2010
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pubmed:articleTitle |
Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening.
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pubmed:affiliation |
Department of Molecular Genetics, Nichols Institute, Quest Diagnostics, San Juan Capistrano, California 92690, USA. Feras.X.Hantash@questdiagnostics.com
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pubmed:publicationType |
Journal Article
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