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Determination Of Alpha-I Antitrypsin Genetic Deficiency In Duodenal Ulcer By Polymerase Chain Reaction, A Shahid, H Qureshi, S J. Zuberi, Anwar Ali Siddiqui, T Sultana, M A. Waqar Jan 2002

Determination Of Alpha-I Antitrypsin Genetic Deficiency In Duodenal Ulcer By Polymerase Chain Reaction, A Shahid, H Qureshi, S J. Zuberi, Anwar Ali Siddiqui, T Sultana, M A. Waqar

Department of Biological & Biomedical Sciences

Objective: To confirm alpha-I-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-i-AT phenotypes were confirmed by polymerase chain reaction followed by restriction enzyme digestion.

Results:Alpha-I-AT concentration in duodenal ulcer patients showed a mean value of 2.12 ± 0.11g/1 (range: 0.52-3.95 g/1, p

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 (JPMA 52:545; 2002).