Related Experiment Videos
Phenotypes of alpha 1 antitrypsin in Karachi, Pakistan
A Shahid1, A A Siddiqui, S J Zuberi
1Pakistan Medical Research Council, Research Centre, Jinnah Postgraduate Medical Centre, Department of Biochemistry, Karachi.
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 adults without history of peptic ulcer disease and a normal endoscopy.
Methodology:
Quantitative measurement of serum alpha 1 AT was carried out by radial immunodiffusion, phenotyping by iso-electric focusing and confirmation of phenotypes by immuno-fixation and DNA analysis technique.
Results:
Serum alpha 1 AT was low in 13.4% of the subjects. MM phenotype predominated followed by SZ, SS,MZ and ZZ. DNA diagnosis accurately resolved the phenotypes as S and Z.
Conclusion:
Frequency of phenotype associated with total and intermediate deficiency is less in the population.