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Phenotypes of alpha 1 antitrypsin in Karachi, Pakistan

Phenotypes of alpha 1 antitrypsin in Karachi, Pakistan

Jpma. Journal of the Pakistan Medical Association 50(11): 374-376

To determine serum level of the protease inhibitor, to identify phenotypes and determine their frequencies. A prospective study. PMRC, Research Centre, JPMC and the Aga Khan University Hospital, Karachi. Healthy adults without history of peptic ulcer disease and a normal endoscopy. 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. 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. Frequency of phenotype associated with total and intermediate deficiency is less in the population.

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Accession: 046973751

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PMID: 11126813

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