title: Determination of alpha-1 antitrypsin genetic deficiency in duodenal ulcer by polymerase chain reaction.
abstract: OBJECTIVE
  To confirm alpha-1-AT deficiency status in duodenal ulcer using a combination of PCR and restricted enzyme digestion.
  
  
  METHODS
  Fifty patients with endoscopically proven duodenal ulcer and hundred controls with no signs of the disease were included. Alpha-1-AT phenotypes were confirmed by polymerase chain reaction followed by restriction enzyme digestion.
  
  
  RESULTS
  Alpha-1-AT concentration in duodenal ulcer patients showed a mean value of 2.12 +/- 0.11 g/l (range: 0.52-3.95 g/l, p < 0.05). In controls this was 2.47 +/- 0.08 g/l (range: 0.52-5.0 g/l). Among the controls 70% had the MM phenotype, 28% M1 M2 and 2% FM. In duodenal ulcer, MM predominates (70%), followed by M1 M2 (18%), SS (4%), SZ (4%), ZZ (2%) and MZ (2%).
  
  
  CONCLUSIONS
  Alpha-1 AT deficiency was found in 10% of duodenal ulcer patients. DNA analysis more accurately resolved the phenotypes as S and Z mutations.
authors.affiliation: PMRC Research Centre, Jinnah Postgraduate Medical Centre, Karachi.
authors.forename: A
authors.initials: A
authors.lastname: Shahid
authors.forename: A A
authors.initials: AA
authors.lastname: Siddiqui
authors.forename: T
authors.initials: T
authors.lastname: Sultana
authors.forename: H
authors.initials: H
authors.lastname: Qureshi
authors.forename: M A
authors.initials: MA
authors.lastname: Waqar
authors.forename: S J
authors.initials: SJ
authors.lastname: Zuberi
mesh_terms: D000328:Adult; D004381:Duodenal Ulcer / Q000150:complications / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction; D000515:alpha 1-Antitrypsin / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D000515:alpha 1-Antitrypsin