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α-1 Antitrypsin phenotypes by isoelectric focusing in a metropolitan southern Chinese population
  1. S S Lee1,
  2. J W M Lawton1,
  3. K H Ko1,
  4. K M Lam1,
  5. C K Lin2
  1. 1Department of Pathology, The University of Hong Kong, Hong Kong Special Administrative Region, China
  2. 2Hong Kong Red Cross Blood Transfusion Service, Hong Kong Special Administrative Region
  1. Dr Lee, Department of Microbiology, The University of Hong Kong, Pokfulam Road, Hong Kong microssl{at}hkucc.hku.hk

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.

  • α-1 antitrypsin
  • isoelectric focusing
  • phenotypes

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