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Article: α-1 antitrypsin phenotypes by isoelectric focusing in a metropolitan southern Chinese population
Title | α-1 antitrypsin phenotypes by isoelectric focusing in a metropolitan southern Chinese population |
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Authors | |
Keywords | Isoelectric focusing Phenotypes α-1 antitrypsin |
Issue Date | 2001 |
Publisher | B 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? |
Abstract | AIMS/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 Identifier | http://hdl.handle.net/10722/45192 |
ISSN | 2023 Impact Factor: 2.5 2023 SCImago Journal Rankings: 0.934 |
PubMed Central ID | |
ISI Accession Number ID |
DC Field | Value | Language |
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dc.contributor.author | Lee, SS | en_HK |
dc.contributor.author | Lawton, JWM | en_HK |
dc.contributor.author | Ko, KH | en_HK |
dc.contributor.author | Lam, KM | en_HK |
dc.contributor.author | Lin, CK | en_HK |
dc.date.accessioned | 2007-10-30T06:19:26Z | - |
dc.date.available | 2007-10-30T06:19:26Z | - |
dc.date.issued | 2001 | en_HK |
dc.identifier.citation | Journal of Clinical Pathology, 2001, v. 54 n. 10, p. 798-800 | en_HK |
dc.identifier.issn | 0021-9746 | en_HK |
dc.identifier.uri | http://hdl.handle.net/10722/45192 | - |
dc.description.abstract | AIMS/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.extent | 218887 bytes | - |
dc.format.extent | 2424 bytes | - |
dc.format.mimetype | application/pdf | - |
dc.format.mimetype | text/plain | - |
dc.language | eng | en_HK |
dc.publisher | B M J Publishing Group. The Journal's web site is located at http://jcp.bmjjournals.com/ | en_HK |
dc.rights | Journal of Clinical Pathology. Copyright © B M J Publishing Group. | en_HK |
dc.subject | Isoelectric focusing | - |
dc.subject | Phenotypes | - |
dc.subject | α-1 antitrypsin | - |
dc.subject.mesh | Asian Continental Ancestry Group - genetics | en_HK |
dc.subject.mesh | alpha 1-Antitrypsin- genetics | en_HK |
dc.subject.mesh | Adolescent | en_HK |
dc.subject.mesh | Heterozygote | en_HK |
dc.subject.mesh | Isoelectric Focusing - methods | en_HK |
dc.title | α-1 antitrypsin phenotypes by isoelectric focusing in a metropolitan southern Chinese population | en_HK |
dc.type | Article | en_HK |
dc.identifier.openurl | http://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+population | en_HK |
dc.description.nature | published_or_final_version | en_HK |
dc.identifier.doi | 10.1136/jcp.54.10.798 | - |
dc.identifier.pmid | 11577132 | en_HK |
dc.identifier.pmcid | PMC1731279 | - |
dc.identifier.scopus | eid_2-s2.0-0034810959 | en_US |
dc.identifier.isi | WOS:000171395700016 | - |
dc.identifier.issnl | 0021-9746 | - |