Short report

-1 Antitrypsin phenotypes by isoelectric focusing in a metropolitan southern Chinese population

S S Lee¹, J W M Lawton¹, K H Ko¹, K M Lam¹ and C K Lin²

¹ Department of Pathology, The University of Hong Kong, Hong Kong Special Administrative Region, China
² Hong Kong Red Cross Blood Transfusion Service, Hong Kong Special Administrative Region

Correspondence to:
Dr Lee, Department of Microbiology, The University of Hong Kong, Pokfulam Road, Hong Kong microssl{at}hkucc.hku.hk

Aims/Background—-1 Antitrypsin (1AT) 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, 1AT deficiency is an uncommon condition in the Chinese population. The aim of this study was to describe the phenotypic distribution of 1AT in a southern Chinese population.

Methods—A total of 1085 healthy blood donors underwent 1AT 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 1AT pattern is important for evaluating the predisposition of the population to selected clinical diseases.

Key Words: -1 antitrypsin • isoelectric focusing • phenotypes

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