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Article: A novel β-thalassemia frameshift mutation (codon 14/15), detectable by direct visualization of abnormal restriction fragment in amplified genomic DNA

TitleA novel β-thalassemia frameshift mutation (codon 14/15), detectable by direct visualization of abnormal restriction fragment in amplified genomic DNA
Authors
Issue Date1988
PublisherAmerican Society of Hematology. The Journal's web site is located at http://bloodjournal.hematologylibrary.org/
Citation
Blood, 1988, v. 72 n. 4, p. 1420-1423 How to Cite?
AbstractA new frameshift mutation due to an insertion of G between codon 14/15 of the β-globin gene was found in two unrelated Chinese patients with Cooley's anemia. The first patient (W.S.) was homozygous for haplotype 5 (Chinese) and carried a codon 41/42 (four base pair deletion) mutant, while the second patient (C.K.) was homozygous for haplotype 2 (Chinese), and also had a codon 17 (A→T) nonsense mutation. Molecular cloning and M13 sequencing of the β gene in patient W.S. revealed that the new mutant was found in a β-globin gene framework type 3 (Asian). Direct sequencing was performed on polymerase chain reaction-amplified genomic DNA from patient C.K. With the new mutation, an additional BstNI or EcoRII recognition site is generated and the abnormal restriction fragment (134 basepair) can be directly visualized on polyacrylamide gel electrophoresis of the amplified genomic DNA.
Persistent Identifierhttp://hdl.handle.net/10722/161745
ISSN
2015 Impact Factor: 11.841
2015 SCImago Journal Rankings: 6.395
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorChan, Ven_US
dc.contributor.authorChan, TKen_US
dc.contributor.authorKan, YWen_US
dc.contributor.authorTodd, Den_US
dc.date.accessioned2012-09-05T05:14:37Z-
dc.date.available2012-09-05T05:14:37Z-
dc.date.issued1988en_US
dc.identifier.citationBlood, 1988, v. 72 n. 4, p. 1420-1423en_US
dc.identifier.issn0006-4971en_US
dc.identifier.urihttp://hdl.handle.net/10722/161745-
dc.description.abstractA new frameshift mutation due to an insertion of G between codon 14/15 of the β-globin gene was found in two unrelated Chinese patients with Cooley's anemia. The first patient (W.S.) was homozygous for haplotype 5 (Chinese) and carried a codon 41/42 (four base pair deletion) mutant, while the second patient (C.K.) was homozygous for haplotype 2 (Chinese), and also had a codon 17 (A→T) nonsense mutation. Molecular cloning and M13 sequencing of the β gene in patient W.S. revealed that the new mutant was found in a β-globin gene framework type 3 (Asian). Direct sequencing was performed on polymerase chain reaction-amplified genomic DNA from patient C.K. With the new mutation, an additional BstNI or EcoRII recognition site is generated and the abnormal restriction fragment (134 basepair) can be directly visualized on polyacrylamide gel electrophoresis of the amplified genomic DNA.en_US
dc.languageengen_US
dc.publisherAmerican Society of Hematology. The Journal's web site is located at http://bloodjournal.hematologylibrary.org/en_US
dc.relation.ispartofBlooden_US
dc.subject.meshBase Sequenceen_US
dc.subject.meshChilden_US
dc.subject.meshCloning, Molecularen_US
dc.subject.meshCodon - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshGene Amplificationen_US
dc.subject.meshHaplotypesen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMolecular Sequence Dataen_US
dc.subject.meshMutationen_US
dc.subject.meshOligonucleotide Probesen_US
dc.subject.meshPolymorphism, Geneticen_US
dc.subject.meshPolymorphism, Restriction Fragment Lengthen_US
dc.subject.meshRna, Messenger - Geneticsen_US
dc.subject.meshThalassemia - Geneticsen_US
dc.titleA novel β-thalassemia frameshift mutation (codon 14/15), detectable by direct visualization of abnormal restriction fragment in amplified genomic DNAen_US
dc.typeArticleen_US
dc.identifier.emailChan, V:vnychana@hkucc.hku.hken_US
dc.identifier.authorityChan, V=rp00320en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.pmid2901867-
dc.identifier.scopuseid_2-s2.0-0023717164en_US
dc.identifier.volume72en_US
dc.identifier.issue4en_US
dc.identifier.spage1420en_US
dc.identifier.epage1423en_US
dc.identifier.isiWOS:A1988Q531100050-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridChan, V=7202654865en_US
dc.identifier.scopusauthoridChan, TK=7402687762en_US
dc.identifier.scopusauthoridKan, YW=7102524964en_US
dc.identifier.scopusauthoridTodd, D=7201388182en_US

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