Phenotypes of Alpha 1 Antitrypsin in Karachi, Pakistan
Biological and Biomedical Sciences
Objective: To determine serum level of the protease inhibitor, to identify phenotypes and determine their frequencies.
Study Design: A prospective study.
Setting: PMRC Research Centre, JPMC and the Aga Khan University Hospital Karachi.
Subjects: Healthy aduIts without history ol peptic ulcer disease and a normal endoscopy.
Methodology: Quantitive measurement of serum alpha 1 AT was carried out by radial immunodiffusion. phenotyping by iso-electric focusing and confirmation of phenotypes by immunofixation and DNA analysis technique.
Results:Serum alpha I AT was low in 13.4% of the subjects. Ni MM phenotype predominated followed by SZ SS, MZ and ZZ. DNA diagnosis accurately resolved the phenotypes as S and Z.
Conclusion: Frequency by phenotype associated with total and intermediate deficiency is less in the population
Journal Of Pakistan Medical Association
Zuberi, S. J.,
(2000). Phenotypes of Alpha 1 Antitrypsin in Karachi, Pakistan. Journal Of Pakistan Medical Association.
Available at: https://ecommons.aku.edu/pakistan_fhs_mc_bbs/255