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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2000-2-24
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pubmed:abstractText |
We have devised an allele-specific amplification method with a TaqMan fluorogenic probe (TaqMan-ASA) for the detection of point mutations. Pairwise PCR amplification using two sets of allele-specific primers in the presence of a TaqMan probe was monitored in real time with a fluorescence detector. Difference in amplification efficiency between the two PCR reactions was determined by "threshold" cycles to differentiate mutant and normal alleles without post-PCR processing. The method measured the efficiency of amplification rather than the presence or absence of end-point PCR products, therefore allowing greater flexibility in designing allele-specific primers and an ample technical margin for allelic discrimination. We applied the TaqMan-ASA method to detect a prevalent 727G>T mutation in Japanese patients with glycogen storage disease type Ia and a common 985A>G mutation in Caucasian patients with medium-chain acyl-CoA dehydrogenase deficiency. The method can be automated and may be applicable to the DNA diagnosis of various genetic diseases.
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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:issn |
1059-7794
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pubmed:author |
pubmed-author:AkanumaJJ,
pubmed-author:FujiiKK,
pubmed-author:IinumaKK,
pubmed-author:ImaizumiMM,
pubmed-author:KureSS,
pubmed-author:MatsubaraYY,
pubmed-author:NarisawaKK,
pubmed-author:RinaldoPP,
pubmed-author:SakatsumeOO,
pubmed-author:SuzukiYY,
pubmed-author:TakahashiKK
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pubmed:copyrightInfo |
Copyright 2000 Wiley-Liss, Inc.
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pubmed:issnType |
Print
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pubmed:volume |
15
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
189-96
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:10649496-Acyl-CoA Dehydrogenase,
pubmed-meshheading:10649496-Acyl-CoA Dehydrogenases,
pubmed-meshheading:10649496-Alleles,
pubmed-meshheading:10649496-Base Pair Mismatch,
pubmed-meshheading:10649496-DNA Mutational Analysis,
pubmed-meshheading:10649496-DNA Primers,
pubmed-meshheading:10649496-DNA Probes,
pubmed-meshheading:10649496-Dose-Response Relationship, Drug,
pubmed-meshheading:10649496-European Continental Ancestry Group,
pubmed-meshheading:10649496-Fluorescent Dyes,
pubmed-meshheading:10649496-Genetic Testing,
pubmed-meshheading:10649496-Genotype,
pubmed-meshheading:10649496-Glycogen Storage Disease Type I,
pubmed-meshheading:10649496-Humans,
pubmed-meshheading:10649496-Japan,
pubmed-meshheading:10649496-Point Mutation,
pubmed-meshheading:10649496-Polymerase Chain Reaction,
pubmed-meshheading:10649496-Sensitivity and Specificity,
pubmed-meshheading:10649496-Taq Polymerase,
pubmed-meshheading:10649496-Templates, Genetic,
pubmed-meshheading:10649496-Time Factors
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pubmed:year |
2000
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pubmed:articleTitle |
Mutation detection by TaqMan-allele specific amplification: application to molecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiency.
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pubmed:affiliation |
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.
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pubmed:publicationType |
Journal Article
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