title: Phenotypes of alpha 1 antitrypsin in Karachi, Pakistan.
abstract: OBJECTIVE
  To determine serum level of the protease inhibitor, to identify phenotypes and determine their frequencies.
  
  
  METHODS
  A prospective study.
  
  
  METHODS
  PMRC, Research Centre, JPMC and the Aga Khan University Hospital, Karachi.
  
  
  METHODS
  Healthy adults without history of peptic ulcer disease and a normal endoscopy.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  Frequency of phenotype associated with total and intermediate deficiency is less in the population.
authors: Pakistan Medical Research Council, Research Centre, Jinnah Postgraduate Medical Centre, Department of Biochemistry, Karachi.
authors: A
authors: A
authors: Shahid
authors: A A
authors: AA
authors: Siddiqui
authors: S J
authors: SJ
authors: Zuberi
authors: M
authors: M
authors: Waqar
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010154:Pakistan; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011446:Prospective Studies; D000515:alpha 1-Antitrypsin / Q000032:analysis* / Q000235:genetics*
chemical_list: D000515:alpha 1-Antitrypsin