Shahid A, Siddiqui A A, Sultana T, Qureshi H, Waqar M A, Sarwar Jehan Zuberi.
Determination of alpha-1 antitrypsin genetic deficiency in duodenal ulcer by polymerase chain reaction.
J Pak Med Assoc Jan ;52(12):545-8.

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%). CONCLUSION: Alpha-1 AT deficiency was found in 10% of duodenal ulcer patients. DNA analysis more accurately resolved the phenotypes as S and Z mutations.

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