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Article: Direct detection of expanded trinucleotide repeats using PCR and DNA hybridization techniques

TitleDirect detection of expanded trinucleotide repeats using PCR and DNA hybridization techniques
Authors
KeywordsMethods of direct detection
Unstable DNA
Issue Date1996
PublisherJohn Wiley & Sons, Inc.
Citation
American Journal Of Medical Genetics - Seminars In Medical Genetics, 1996, v. 67 n. 1, p. 85-91 How to Cite?
AbstractRecently, unstable trinucleotide repeats have been shown to be the etiologic factor in seven neuropsychiatric diseases, and they may play a similar role in other genetic disorders which exhibit genetic anticipation. We have tested one polymerase chain reaction (PCR)-based and two hybridization-based methods for direct detection of unstable DNA expansion in genomic DNA. This technique employs a single primer (asymmetric) PCR using total genomic DNA as a template to efficiently screen for the presence of large trinucleotide repeat expansions. High-stringency Southern blot hybridization with a PCR-generated trinucleotide repeat probe allowed detection of the DNA fragment containing the expansion. Analysis of myotonic dystrophy patients containing different degrees of (CTG)n expansion demonstrated the identification of the site of trinucleotide instability in some affected individuals without any prior information regarding genetic map location. The same probe was used for fluorescent in situ hybridization and several regions of (CTG)n/(CAG)n repeats in the human genome were detected, including the myotonic dystrophy locus on chromosome 19q. Although limited at present to large trinucleotide repeat expansions, these strategies can be applied to directly clone genes involved in disorders caused by large expansions of unstable DNA. © 1996 Wiley-Liss, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/44291
ISSN
2003 Impact Factor: -999.999
2009 SCImago Journal Rankings: 1.100
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorPetronis, Aen_HK
dc.contributor.authorHeng, HHQen_HK
dc.contributor.authorTatuch, Yen_HK
dc.contributor.authorShi, XMen_HK
dc.contributor.authorKlempan, TAen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorAshizawa, Ten_HK
dc.contributor.authorSurh, LCen_HK
dc.contributor.authorHolden, JJAen_HK
dc.contributor.authorKennedy, JLen_HK
dc.date.accessioned2007-09-12T03:50:46Z-
dc.date.available2007-09-12T03:50:46Z-
dc.date.issued1996en_HK
dc.identifier.citationAmerican Journal Of Medical Genetics - Seminars In Medical Genetics, 1996, v. 67 n. 1, p. 85-91en_HK
dc.identifier.issn0148-7299en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44291-
dc.description.abstractRecently, unstable trinucleotide repeats have been shown to be the etiologic factor in seven neuropsychiatric diseases, and they may play a similar role in other genetic disorders which exhibit genetic anticipation. We have tested one polymerase chain reaction (PCR)-based and two hybridization-based methods for direct detection of unstable DNA expansion in genomic DNA. This technique employs a single primer (asymmetric) PCR using total genomic DNA as a template to efficiently screen for the presence of large trinucleotide repeat expansions. High-stringency Southern blot hybridization with a PCR-generated trinucleotide repeat probe allowed detection of the DNA fragment containing the expansion. Analysis of myotonic dystrophy patients containing different degrees of (CTG)n expansion demonstrated the identification of the site of trinucleotide instability in some affected individuals without any prior information regarding genetic map location. The same probe was used for fluorescent in situ hybridization and several regions of (CTG)n/(CAG)n repeats in the human genome were detected, including the myotonic dystrophy locus on chromosome 19q. Although limited at present to large trinucleotide repeat expansions, these strategies can be applied to directly clone genes involved in disorders caused by large expansions of unstable DNA. © 1996 Wiley-Liss, Inc.en_HK
dc.languageengen_HK
dc.publisherJohn Wiley & Sons, Inc.en_HK
dc.relation.ispartofAmerican Journal of Medical Genetics - Seminars in Medical Geneticsen_HK
dc.subjectMethods of direct detectionen_HK
dc.subjectUnstable DNAen_HK
dc.subject.meshUnstable dnaen_HK
dc.subject.meshMethods of direct detectionen_HK
dc.subject.meshBlotting, southern - methodsen_HK
dc.subject.meshDna - analysis - geneticsen_HK
dc.subject.meshTrinucleotide repeatsen_HK
dc.titleDirect detection of expanded trinucleotide repeats using PCR and DNA hybridization techniquesen_HK
dc.typeArticleen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltexten_HK
dc.identifier.doi10.1002/(SICI)1096-8628(19960216)67:1<85::AID-AJMG15>3.0.CO;2-L-
dc.identifier.pmid8678121-
dc.identifier.scopuseid_2-s2.0-0029964334en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0029964334&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume67en_HK
dc.identifier.issue1en_HK
dc.identifier.spage85en_HK
dc.identifier.epage91en_HK
dc.identifier.isiWOS:A1996TY40300016-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridPetronis, A=7003912209en_HK
dc.identifier.scopusauthoridHeng, HHQ=7005338076en_HK
dc.identifier.scopusauthoridTatuch, Y=6508017727en_HK
dc.identifier.scopusauthoridShi, XM=37043617300en_HK
dc.identifier.scopusauthoridKlempan, TA=6603094352en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridAshizawa, T=7103079513en_HK
dc.identifier.scopusauthoridSurh, LC=7004610469en_HK
dc.identifier.scopusauthoridHolden, JJA=7201609725en_HK
dc.identifier.scopusauthoridKennedy, JL=36012646700en_HK

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