title: PCR-based screening for the most prevalent alpha 1 antitrypsin deficiency mutations (PI S, Z, and Mmalton) in COPD patients from Eastern Tunisia.
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.
authors.affiliation: Biochemistry and Molecular Biology Laboratory, Faculty of Pharmacy, 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 Boudawara
authors.initials: NB
authors.lastname: Keskes
authors.forename: Mohamed Hedi
authors.initials: MH
authors.lastname: Hamdaoui
authors.forename: Jemni Ben
authors.initials: JB
authors.lastname: Chibani
authors.forename: Amel Haj
authors.initials: AH
authors.lastname: Khelil
mesh_terms: D000483:Alleles; D014644:Genetic Variation; D060005:Genotyping Techniques; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D015995:Prevalence; D029424:Pulmonary Disease, Chronic Obstructive / Q000235:genetics*; D014416:Tunisia; D000515:alpha 1-Antitrypsin / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency / Q000175:diagnosis / Q000235:genetics*
chemical_list: D000515:alpha 1-Antitrypsin