Rapid Genotyping of Alpha 1 Antitrypsin Deletion Mutation (PI*Mmalton) Using Bi-directional PCR Allele-specific Amplification

Sabri Denden*, Ramzi Lakhdar, Nadia Leban, Jemni Ben Chibani, Amel Haj Khelil

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)111-115
Number of pages5
JournalMolecular Biotechnology
Issue number2
Publication statusPublished - Jun 2010


  • Alpha 1 antitrypsin deficiency
  • PI*Mmalton allele
  • Bi-directional PCR allele-specific amplification

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