Abstract
Since the first description of alpha one antitrypsin deficiency (AATD) by Laurell and Eriksson in 1963, it has become a common but under-recognized genetic condition that predisposes to chronic obstructive pulmonary disease (COPD) and liver disease [1]. The prevalence of AATD is variable among different geographic areas and ethnic groups, where prevalence of the PiS allele is highest for countries in Southern Europe (Iberian Peninsula) and Sub-Sahara Africa. On the other hand, maximal PiZ frequencies (2-4%) are found in the southern regions of the Scandinavian countries [2].
Highlights
Since the first description of alpha one antitrypsin deficiency (AATD) by Laurell and Eriksson in 1963, it has become a common but under-recognized genetic condition that predisposes to chronic obstructive pulmonary disease (COPD) and liver disease [1]
The prevalence of AATD is variable among different geographic areas and ethnic groups, where prevalence of the PiS allele is highest for countries in Southern Europe (Iberian Peninsula) and Sub-Sahara Africa
In an Egyptian study for molecular screening of the most common AATD mutations among children with unidentified liver diseases using amplification refractory mutation system (ARMS) technique, MM genotype was predominant in patients and control (64.5% vs. 96%)
Summary
Since the first description of alpha one antitrypsin deficiency (AATD) by Laurell and Eriksson in 1963, it has become a common but under-recognized genetic condition that predisposes to chronic obstructive pulmonary disease (COPD) and liver disease [1]. In an Egyptian study for molecular screening of the most common AATD mutations among children with unidentified liver diseases using amplification refractory mutation system (ARMS) technique, MM genotype was predominant in patients and control (64.5% vs 96%). MZ and SZ genotypes were not detected in control but were present in 17.8%, 11.1% patients respectively. Variants of AAT that are not associated with changes in serum concentration or functional activity from the normal range are termed as the normal allelic variants. When two alleles have an identical IEF pattern and the sequence difference is known, the relevant residue is indicated [11]. For example; the two most common AAT alleles, M1 (Val213) and M1 (Ala213), have IEF patterns of M1, but differ at residue 213 by the neutral amino acids valine and alanine [12]. Variants may be classified by their effect on AAT protein level and its function – normal, deficient, null or dysfunctional
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