Pakistan 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.

Article: Original Article

Keywords:

Phenotypes.
Protease Inhibitor.
Pulmonary Emphysema.
Genetic Testing.
Gene Frequency.
Immunoglobulin E.
Pulmonary Disease, Chronic Obstructive.
Alleles.
Genetic Variation.

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