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Lookup NU author(s): Dr Ramzi LakhdarORCiD
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Alpha 1 antitrypsin deficiency (AATD) is a well recognized genetic risk factor for pulmonary disease and less common liver disease. The two most common deficiency alleles worldwide PI*S and PI*Z can be easily detected using several molecular methods. However, there are at least 30 other AATD variants, which are only detectable by alpha 1 antitrypsin (AAT) gene sequencing and, therefore, seem to be more under-recognized than the PI*S and PI*Z alleles. PI*Mmalton is the most frequent AATD variant in different regions of the Southern Mediterranean basin countries, where its prevalence seems to prevail over PI*S and PI*Z. In this work, we report the development of a simple PCR-based analysis designed for the detection of the PI*Mmalton deficiency alleles using two specific primers. A one-tube reaction enables the distinction between the different genotypes. This reliable, easy, fast, and low-cost technique might be useful for laboratories involved in the study of AATD-related diseases, especially those of the Southern Mediterranean basin area with modest budget or where sophisticated equipment is not available. This will allow larger targeted screening for PI*Mmalton in order to better understand this mutation epidemiology and its origin. © Springer Science+Business Media, LLC 2010.
Author(s): Denden S, Lakhdar R, Leban N, Ben Chibani J, Haj Khelil A
Publication type: Article
Publication status: Published
Journal: Molecular Biotechnology
Year: 2010
Volume: 45
Issue: 2
Pages: 111-115
Print publication date: 01/06/2010
Online publication date: 28/01/2010
ISSN (print): 1073-6085
ISSN (electronic): 1559-0305
Publisher: Springer
URL: https://doi.org/10.1007/s12033-010-9246-9
DOI: 10.1007/s12033-010-9246-9
PubMed id: 20108056
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