Α-1 Antitrypsin phenotypes by isoelectric focusing in a metropolitan southern Chinese population. Issue 10 (1st October 2001)

• Record Type: Journal Article
• Authors: Lee, S S; Lawton, J W M; Ko, K H; Lam, K M; Lin, C K
• Is Part Of: Journal of clinical pathology. Volume 54:Issue 10(2001)
• Page Start: 798
• Page End: 800
• Publication Date: 2001-10-01
• Subjects: α-1 antitrypsin -- isoelectric focusing -- phenotypes; Pathology -- Periodicals; Pathology, Molecular -- Periodicals; 616.0705
• Languages: English
• ISSNs: 0021-9746

Abstract

Abstract : Aims/Background —α-1 Antitrypsin (α1AT) 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, α1AT deficiency is an uncommon condition in the Chinese population. The aim of this study was to describe the phenotypic distribution of α1AT in a southern Chinese population. Methods —A total of 1085 healthy blood donors underwent α1AT 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 α1AT pattern is important for evaluating the predisposition of the population to selected clinical diseases.