Abstract / Description of output
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 language | English |
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Pages (from-to) | 111-115 |
Number of pages | 5 |
Journal | Molecular Biotechnology |
Volume | 45 |
Issue number | 2 |
DOIs | |
Publication status | Published - Jun 2010 |
Keywords / Materials (for Non-textual outputs)
- Alpha 1 antitrypsin deficiency
- PI*Mmalton allele
- Bi-directional PCR allele-specific amplification
- ALPHA(1)-ANTITRYPSIN DEFICIENCY
- MOLECULAR-BASIS
- LUNG-DISEASE
- REGISTRY