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Article: Distribution of β-thalassemia mutations in South China and their association with haplotypes

TitleDistribution of β-thalassemia mutations in South China and their association with haplotypes
Authors
Chan, VChan, TKChebab, FFTodd, D
Issue Date1987
PublisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/
Citation
American Journal Of Human Genetics, 1987, v. 41 n. 4, p. 678-685 How to Cite?
AbstractDNA from 93 Chinese β-thalassemia chromosomes were hybridized to eight different mutant oligomers to determine their specific mutation. Four mutations accounted for 87% of the chromosomes; in descending frequencies, these mutations were codon 41/42, IVS-2 nt654, codon 17, and -28. Since codon 41/42 mutation can be associated with multiple β-thalassemia haplotypes, codon 41/42 is probably a hot spot for the 4-bp deletion. The distributions of these mutations were mapped to various regions in south China. These data are useful for the planning of prenatal diagnosis programs in other Chinese communities worldwide.
Persistent Identifierhttp://hdl.handle.net/10722/161739
ISSN
0002-9297
2023 Impact Factor: 8.1
2023 SCImago Journal Rankings: 4.516
ISI Accession Number ID
WOS:A1987K462100017

 

DC FieldValueLanguage
dc.contributor.authorChan, Ven_US
dc.contributor.authorChan, TKen_US
dc.contributor.authorChebab, FFen_US
dc.contributor.authorTodd, Den_US
dc.date.accessioned2012-09-05T05:14:35Z-
dc.date.available2012-09-05T05:14:35Z-
dc.date.issued1987en_US
dc.identifier.citationAmerican Journal Of Human Genetics, 1987, v. 41 n. 4, p. 678-685en_US
dc.identifier.issn0002-9297en_US
dc.identifier.urihttp://hdl.handle.net/10722/161739-
dc.description.abstractDNA from 93 Chinese β-thalassemia chromosomes were hybridized to eight different mutant oligomers to determine their specific mutation. Four mutations accounted for 87% of the chromosomes; in descending frequencies, these mutations were codon 41/42, IVS-2 nt654, codon 17, and -28. Since codon 41/42 mutation can be associated with multiple β-thalassemia haplotypes, codon 41/42 is probably a hot spot for the 4-bp deletion. The distributions of these mutations were mapped to various regions in south China. These data are useful for the planning of prenatal diagnosis programs in other Chinese communities worldwide.en_US
dc.languageengen_US
dc.publisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/en_US
dc.relation.ispartofAmerican Journal of Human Geneticsen_US
dc.subject.meshChinaen_US
dc.subject.meshChromosome Mappingen_US
dc.subject.meshGlobins - Geneticsen_US
dc.subject.meshHeterozygoteen_US
dc.subject.meshMutationen_US
dc.subject.meshPolymorphism, Geneticen_US
dc.subject.meshPolymorphism, Restriction Fragment Lengthen_US
dc.subject.meshThalassemia - Epidemiology - Geneticsen_US
dc.titleDistribution of β-thalassemia mutations in South China and their association with haplotypesen_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.pmid2889357-
dc.identifier.scopuseid_2-s2.0-0023621964en_US
dc.identifier.volume41en_US
dc.identifier.issue4en_US
dc.identifier.spage678en_US
dc.identifier.epage685en_US
dc.identifier.isiWOS:A1987K462100017-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridChan, V=7202654865en_US
dc.identifier.scopusauthoridChan, TK=7402687762en_US
dc.identifier.scopusauthoridChebab, FF=6504116244en_US
dc.identifier.scopusauthoridTodd, D=7201388182en_US
dc.identifier.issnl0002-9297-

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