Source:http://linkedlifedata.com/resource/pubmed/id/15727248
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
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pubmed:dateCreated |
2005-2-24
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pubmed:abstractText |
beta-thalassemia is one of the most common inherited diseases with incidence varying between 3% and 10% in the high-prevalence regions of South China. The molecular defects are mostly due to single-nucleotide substitutions, minor insertions, and deletions in the beta-globin gene. Large-scale population genetic screening combined with prenatal diagnosis is necessary for the effective prevention of this disease. We present a single base extension (SBE) method based on homogenous fluorescence polarization (FP) for simultaneous detection of the eight most common causative mutations [CDs 41-42 (-TCTT), IVS-2-654 (C-->T), -28 (A-->G), CD17 (A-->T), CD 71/72 (+A), CD26 (G-->A), -29 (A-->G), and CD43 (G-->T)] in the beta-globin gene in a Chinese population. This assay has been validated by a blind experiment with 100 clinical samples previously characterized by reverse dot-blot and direct sequencing. The results demonstrate that this high-throughput method is simple, reliable, and cost effective. We expect this approach can be used in large-scale genetic screening for beta-thalassemia.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:issn |
1090-6576
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
8
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
257-62
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:15727248-Asian Continental Ancestry Group,
pubmed-meshheading:15727248-China,
pubmed-meshheading:15727248-DNA Mutational Analysis,
pubmed-meshheading:15727248-Fluorescence Polarization,
pubmed-meshheading:15727248-Globins,
pubmed-meshheading:15727248-Humans,
pubmed-meshheading:15727248-Mutation,
pubmed-meshheading:15727248-beta-Thalassemia
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pubmed:year |
2004
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pubmed:articleTitle |
Reliable and high-throughput mutation screening for beta-thalassemia by a single-base extension/fluorescence polarization assay.
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pubmed:affiliation |
Department of Medical Genetics, First Military Medical University, Guangzhou 510515, Guangdong Province, PR China.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Evaluation Studies
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