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PCR-Based Screening for the Most Prevalent Alpha 1 Antitrypsin Deficiency Mutations (PI S, Z, and Mmalton) in COPD Patients from Eastern Tunisia

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Abstract

It is generally agreed that the protease inhibitor (PI) alleles PI*S (Val264Glu) and PI*Z (Lys342Glu) are the most common alpha 1 antitrypsin deficiency variants worldwide, but the PI*Mmalton allele (ΔPhe52) prevails over these variants in some Mediterranean regions. In eastern Tunisia (Mahdia), we screened 100 subjects with chronic obstructive pulmonary disease for these variants. The PI*S and PI*Z alleles were genotyped by the previously described SexAI/Hpγ99I RFLP–PCR. We provide here a new method for PI*Mmalton genotyping using mismatched RFLP–PCR. These methods are suitable for routine clinical application and can easily be reproduced by several laboratories, since they do not require extensive optimization, unlike the previously described bidirectional allele-specific amplification PCR for PI*Mmalton genotyping. Our results were in agreement with previous reports from central Tunisia (Kairouan), suggesting that the PI*Mmalton mutation is the most frequent alpha 1 antitrypsin deficiency-related mutation in Tunisia.

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Acknowledgments

The authors fully acknowledge the contribution of the Center for Diagnosis of Inherited Alpha1-antitrypsin Deficiency, Institute for Respiratory Disease, IRCCS San Matteo Hospital Foundation, Pavia, Italy.

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Authors and Affiliations

  1. Biochemistry and Molecular Biology Laboratory, Faculty of Pharmacy, Monastir, Tunisia

    Sabri Denden, Ramzi Lakhdar, Jemni Ben Chibani & Amel Haj Khelil

  2. Pulmonology Department, CHU Tahar Sfar, Mahdia, Tunisia

    Nadia Boudawara Keskes

  3. Research Unit on Antioxidant Compounds, Oxidative Stress, Trace Elements and Metabolic Diseases, ESSTST, University El-Manar, Tunis, Tunisia

    Sabri Denden & Mohamed Hedi Hamdaoui

Authors
  1. Sabri Denden
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  2. Ramzi Lakhdar
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  3. Nadia Boudawara Keskes
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  4. Mohamed Hedi Hamdaoui
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  5. Jemni Ben Chibani
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  6. Amel Haj Khelil
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Correspondence to Sabri Denden.

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Denden, S., Lakhdar, R., Boudawara Keskes, N. et al. PCR-Based Screening for the Most Prevalent Alpha 1 Antitrypsin Deficiency Mutations (PI S, Z, and Mmalton) in COPD Patients from Eastern Tunisia. Biochem Genet 51, 677–685 (2013). https://doi.org/10.1007/s10528-013-9597-6

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  • DOI: https://doi.org/10.1007/s10528-013-9597-6

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