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Article: Methods for analysis of multiple cystic fibrosis mutations

TitleMethods for analysis of multiple cystic fibrosis mutations
Authors
Issue Date1991
PublisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
Citation
Human Genetics, 1991, v. 87 n. 5, p. 613-617 How to Cite?
AbstractA large number of mutations causing cystic fibrosis (CF) have been reported. In an attempt to improve methods for genetic diagnosis and for heterozygote screening, we evaluated methods for efficient analysis of the ΔF508, G542X, G551D, R553X, and N1303K mutations. We found that multiple mutations can be analyzed simultaneously using hybridization with allele specific oligonucleotides. Alternatively all of these mutations can be detected by amplification of DNA followed by restriction enzyme digestion and analysis on polyacrylamide gels. A previously reported method for use of modified primers for DNA amplification to allow detection of virtually any single-base change by restriction enzyme analysis proved particularly useful. The common ΔF508 mutation and three mutations in exon 11 were analyzed using a multiplex amplification reaction followed by double digestion with restriction enzymes and electrophoresis in a single lane on a polyacrylamide gel. In a sample of 439 CF chromosomes from North American Caucasians, the frequencies of various mutations were as follows: ΔF508 = 75.8%, G542X = 2.7%, G551D = 3.2%, R553X = 1.4%, and N1303K = 1.4% for a total of 84.5% detection of CF chromosomes by analysis for these five mutations.
Persistent Identifierhttp://hdl.handle.net/10722/44248
ISSN
2015 Impact Factor: 5.138
2015 SCImago Journal Rankings: 2.931
Other Identifiers
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorNg, ISLen_HK
dc.contributor.authorPace, Ren_HK
dc.contributor.authorRichard, MVen_HK
dc.contributor.authorKobayashi, Ken_HK
dc.contributor.authorKerem, Ben_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorBeaudet, ALen_HK
dc.date.accessioned2007-09-12T03:49:51Z-
dc.date.available2007-09-12T03:49:51Z-
dc.date.issued1991en_HK
dc.identifierhttp://www.springerlink.com/content/m337511hk4724733/fulltext.pdfen_HK
dc.identifier.citationHuman Genetics, 1991, v. 87 n. 5, p. 613-617en_HK
dc.identifier.issn0340-6717en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44248-
dc.description.abstractA large number of mutations causing cystic fibrosis (CF) have been reported. In an attempt to improve methods for genetic diagnosis and for heterozygote screening, we evaluated methods for efficient analysis of the ΔF508, G542X, G551D, R553X, and N1303K mutations. We found that multiple mutations can be analyzed simultaneously using hybridization with allele specific oligonucleotides. Alternatively all of these mutations can be detected by amplification of DNA followed by restriction enzyme digestion and analysis on polyacrylamide gels. A previously reported method for use of modified primers for DNA amplification to allow detection of virtually any single-base change by restriction enzyme analysis proved particularly useful. The common ΔF508 mutation and three mutations in exon 11 were analyzed using a multiplex amplification reaction followed by double digestion with restriction enzymes and electrophoresis in a single lane on a polyacrylamide gel. In a sample of 439 CF chromosomes from North American Caucasians, the frequencies of various mutations were as follows: ΔF508 = 75.8%, G542X = 2.7%, G551D = 3.2%, R553X = 1.4%, and N1303K = 1.4% for a total of 84.5% detection of CF chromosomes by analysis for these five mutations.en_HK
dc.languageengen_HK
dc.publisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htmen_HK
dc.relation.ispartofHuman Geneticsen_HK
dc.rightsThe original publication is available at www.springerlink.comen_HK
dc.subject.meshCystic fibrosis - geneticsen_HK
dc.subject.meshDna mutational analysisen_HK
dc.subject.meshMutationen_HK
dc.subject.meshPolymerase chain reactionen_HK
dc.subject.meshMolecular sequence dataen_HK
dc.titleMethods for analysis of multiple cystic fibrosis mutationsen_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.doi10.1007/BF00209023-
dc.identifier.pmid1916764-
dc.identifier.scopuseid_2-s2.0-0025946358en_HK
dc.identifier.volume87en_HK
dc.identifier.issue5en_HK
dc.identifier.spage613en_HK
dc.identifier.epage617en_HK
dc.identifier.isiWOS:A1991GF13300013-
dc.publisher.placeGermanyen_HK
dc.identifier.scopusauthoridNg, ISL=7102753734en_HK
dc.identifier.scopusauthoridPace, R=7103233101en_HK
dc.identifier.scopusauthoridRichard, MV=16216739000en_HK
dc.identifier.scopusauthoridKobayashi, K=7407127141en_HK
dc.identifier.scopusauthoridKerem, B=35376353800en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridBeaudet, AL=7102581677en_HK

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