Determination of alpha-1 antitrypsin genetic deficiency in duodenal ulcer by polymerase chain reaction.
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.
Shahid
A
A
PMRC Research Centre, Jinnah Postgraduate Medical Centre, Karachi.
Siddiqui
A A
AA
Sultana
T
T
Qureshi
H
H
Waqar
M A
MA
Zuberi
S J
SJ
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*
D005819:Genetic Markers; D000515:alpha 1-Antitrypsin