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Article: Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA)

TitleDetecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA)
Authors
Issue Date2006
PublisherElsevier Inc. The Journal's web site is located at http://www.elsevier.com/locate/clinbiochem
Citation
Clinical Biochemistry, 2006, v. 39 n. 4, p. 367-372 How to Cite?
AbstractObjectives: To evaluate the efficacy of Multiplex Ligation-dependent Probe Amplification (MLPA) technique in comparison with the traditional multiplex PCR assay in detection of exon deletions and duplications of the DMD gene. Design and methods: The sensitivity and accuracy of MLPA were assessed and compared with the multiplex PCR in a total of 63 subjects including 43 subjects with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) and 20 female carriers. Results: MLPA was able to detect all the known deletions and duplications; it detected four additional mutations that had been missed by multiplex PCR. In addition, the extent of the deletions and duplications could be more accurately defined which in turn facilitated a genotype-phenotype correlation. Conclusions: MLPA is superior to multiplex PCR. It should be the method of choice for the detection of exon deletions and duplications of the DMD gene in patients with DMD or BMD, as well as in female carriers. © 2005 The Canadian Society of Clinical Chemists.
Persistent Identifierhttp://hdl.handle.net/10722/68114
ISSN
2015 Impact Factor: 2.382
2015 SCImago Journal Rankings: 0.893
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLai, KKSen_HK
dc.contributor.authorLo, IFMen_HK
dc.contributor.authorTong, TMFen_HK
dc.contributor.authorCheng, LYLen_HK
dc.contributor.authorLam, STSen_HK
dc.date.accessioned2010-09-06T06:01:28Z-
dc.date.available2010-09-06T06:01:28Z-
dc.date.issued2006en_HK
dc.identifier.citationClinical Biochemistry, 2006, v. 39 n. 4, p. 367-372en_HK
dc.identifier.issn0009-9120en_HK
dc.identifier.urihttp://hdl.handle.net/10722/68114-
dc.description.abstractObjectives: To evaluate the efficacy of Multiplex Ligation-dependent Probe Amplification (MLPA) technique in comparison with the traditional multiplex PCR assay in detection of exon deletions and duplications of the DMD gene. Design and methods: The sensitivity and accuracy of MLPA were assessed and compared with the multiplex PCR in a total of 63 subjects including 43 subjects with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) and 20 female carriers. Results: MLPA was able to detect all the known deletions and duplications; it detected four additional mutations that had been missed by multiplex PCR. In addition, the extent of the deletions and duplications could be more accurately defined which in turn facilitated a genotype-phenotype correlation. Conclusions: MLPA is superior to multiplex PCR. It should be the method of choice for the detection of exon deletions and duplications of the DMD gene in patients with DMD or BMD, as well as in female carriers. © 2005 The Canadian Society of Clinical Chemists.en_HK
dc.languageengen_HK
dc.publisherElsevier Inc. The Journal's web site is located at http://www.elsevier.com/locate/clinbiochemen_HK
dc.relation.ispartofClinical Biochemistryen_HK
dc.rightsClinical Biochemistry. Copyright © Elsevier Inc.en_HK
dc.subject.meshDystrophin - geneticsen_HK
dc.subject.meshExonsen_HK
dc.subject.meshFemaleen_HK
dc.subject.meshGene Amplificationen_HK
dc.subject.meshGene Deletionen_HK
dc.subject.meshGene Duplicationen_HK
dc.subject.meshHumansen_HK
dc.subject.meshMaleen_HK
dc.subject.meshPolymerase Chain Reaction - methodsen_HK
dc.titleDetecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA)en_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0009-9120&volume=&spage=&epage=&date=2005&atitle=Detecting+exon+deletions+and+duplications+of+the+DMD+gene+using+Multiplex+Ligation-dependent+Probe+Amplification+(MLPA).en_HK
dc.identifier.emailCheng, LYL:lcheng@hkucc.hku.hken_HK
dc.identifier.authorityCheng, LYL=rp00317en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1016/j.clinbiochem.2005.11.019en_HK
dc.identifier.pmid16413013-
dc.identifier.scopuseid_2-s2.0-33746137427en_HK
dc.identifier.hkuros114961en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-33746137427&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume39en_HK
dc.identifier.issue4en_HK
dc.identifier.spage367en_HK
dc.identifier.epage372en_HK
dc.identifier.isiWOS:000237378300008-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridLai, KKS=12781162200en_HK
dc.identifier.scopusauthoridLo, IFM=7004438286en_HK
dc.identifier.scopusauthoridTong, TMF=8648362100en_HK
dc.identifier.scopusauthoridCheng, LYL=7403337122en_HK
dc.identifier.scopusauthoridLam, STS=7402279428en_HK

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