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Article: α-1 antitrypsin phenotypes by isoelectric focusing in a metropolitan southern Chinese population

Titleα-1 antitrypsin phenotypes by isoelectric focusing in a metropolitan southern Chinese population
Authors
Issue Date2001
PublisherB M J Publishing Group. The Journal's web site is located at http://jcp.bmjjournals.com/
Citation
Journal of Clinical Pathology, 2001, v. 54 n. 10, p. 798-800 How to Cite?
AbstractAIMS/BACKGROUND: alpha-1 antitrypsin (alpha1AT) is an abundant protease inhibitor in human plasma. Its phenotypic variability has been reported to be associated with pulmonary emphysema and chronic liver diseases. However, alpha1AT deficiency is an uncommon condition in the Chinese population. The aim of this study was to describe the phenotypic distribution of alpha1AT in a southern Chinese population. METHODS: A total of 1085 healthy blood donors underwent alpha1AT phenotyping by isoelectric focusing. RESULTS: Two thirds (66.1%) were homozygous for either M1 or M2, whereas 32.6% were heterozygous for two different M phenotypes. The frequency of allelic variants was only 0.007, and deficiency variants were absent. Compared with earlier studies on southern Chinese populations, this study found a lower frequency of M2, and a higher number of allelic variants, including E, L, N, P, and S. This phenomenon can be attributed to population migration and mixing. CONCLUSIONS: An understanding of the alpha1AT pattern is important for evaluating the predisposition of the population to selected clinical diseases.
Persistent Identifierhttp://hdl.handle.net/10722/45192
ISSN
2015 Impact Factor: 2.912
2015 SCImago Journal Rankings: 1.260
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorLee, SSen_HK
dc.contributor.authorLawton, JWMen_HK
dc.contributor.authorKo, KHen_HK
dc.contributor.authorLam, KMen_HK
dc.contributor.authorLin, CKen_HK
dc.date.accessioned2007-10-30T06:19:26Z-
dc.date.available2007-10-30T06:19:26Z-
dc.date.issued2001en_HK
dc.identifier.citationJournal of Clinical Pathology, 2001, v. 54 n. 10, p. 798-800en_HK
dc.identifier.issn0021-9746en_HK
dc.identifier.urihttp://hdl.handle.net/10722/45192-
dc.description.abstractAIMS/BACKGROUND: alpha-1 antitrypsin (alpha1AT) is an abundant protease inhibitor in human plasma. Its phenotypic variability has been reported to be associated with pulmonary emphysema and chronic liver diseases. However, alpha1AT deficiency is an uncommon condition in the Chinese population. The aim of this study was to describe the phenotypic distribution of alpha1AT in a southern Chinese population. METHODS: A total of 1085 healthy blood donors underwent alpha1AT phenotyping by isoelectric focusing. RESULTS: Two thirds (66.1%) were homozygous for either M1 or M2, whereas 32.6% were heterozygous for two different M phenotypes. The frequency of allelic variants was only 0.007, and deficiency variants were absent. Compared with earlier studies on southern Chinese populations, this study found a lower frequency of M2, and a higher number of allelic variants, including E, L, N, P, and S. This phenomenon can be attributed to population migration and mixing. CONCLUSIONS: An understanding of the alpha1AT pattern is important for evaluating the predisposition of the population to selected clinical diseases.en_HK
dc.format.extent218887 bytes-
dc.format.extent2424 bytes-
dc.format.mimetypeapplication/pdf-
dc.format.mimetypetext/plain-
dc.languageengen_HK
dc.publisherB M J Publishing Group. The Journal's web site is located at http://jcp.bmjjournals.com/en_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.rightsJournal of Clinical Pathology. Copyright © B M J Publishing Group.en_HK
dc.subject.meshAsian Continental Ancestry Group - geneticsen_HK
dc.subject.meshalpha 1-Antitrypsin- geneticsen_HK
dc.subject.meshAdolescenten_HK
dc.subject.meshHeterozygoteen_HK
dc.subject.meshIsoelectric Focusing - methodsen_HK
dc.titleα-1 antitrypsin phenotypes by isoelectric focusing in a metropolitan southern Chinese populationen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0021-9746&volume=54&issue=10&spage=798&epage=800&date=2001&atitle=Alpha-1+antitrypsin+phenotypes+by+isoelectric+focusing+in+a+metropolitan+southern+Chinese+populationen_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.pmid11577132en_HK
dc.identifier.pmcidPMC1731279-
dc.identifier.scopuseid_2-s2.0-0034810959en_US
dc.identifier.isiWOS:000171395700016-

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