title: Rapid genotyping of alpha 1 antitrypsin deletion mutation (PI*Mmalton) using bi-directional PCR allele-specific amplification.
abstract: 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.
authors.affiliation: Faculty of Pharmacy, Biochemistry and Molecular Biology Laboratory, 1 AV Avicenne, 5019 Monastir, Tunisia. denden_sabri@yahoo.fr
authors.forename: Sabri
authors.initials: S
authors.lastname: Denden
authors.forename: Ramzi
authors.initials: R
authors.lastname: Lakhdar
authors.forename: Nadia
authors.initials: N
authors.lastname: Leban
authors.forename: Jemni
authors.initials: J
authors.lastname: Ben Chibani
authors.forename: Amel
authors.initials: A
authors.lastname: Haj Khelil
mesh_terms: D000483:Alleles; D001483:Base Sequence; D005838:Genotype; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction / Q000379:methods*; D017384:Sequence Deletion; D000515:alpha 1-Antitrypsin / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency / Q000235:genetics*
chemical_list: D000515:alpha 1-Antitrypsin