Immunonephelometry and Reverse Hybrydization Genotyping in Diagnosis of Alpha-1-Antitrypsin Deficiency in Macedonians

Olivija Efinska-Mladenovska, Dejan Trajkov, Aleksandar Petlichkovski, Olgica Sibinovska, Slavica Hristomanova Mitkovska, Mirko Spiroski

Abstract


BACKGROUND: With a frequency of 1:1600, the alpha-1-antitrypsin deficiency is one of the most frequent hereditary diseases and can be recessively inherited. AAT deficiency is most often caused by inheritance of the so-called PiZ allele. Inheritance of this allele increases the risk of developing chronic obstructive pulmonary diseases (COPD) and liver disease.

AIM: The aim of this study was to present immunonephelometry and reverse hybridization genotyping in diagnosis of alpha-1-antitrypsin deficiency in Republic of Macedonia.

MATERIAL AND METHODS: At the Institute of Immunobiology and Human Genetics, part of the Faculty of Medicine in Skopje, in the previous 7 years, total of 361 patients with suspected alpha-1-antitrypsin (AAT) deficiency were referred for analysis of AAT concentration using nephelometry (Dade Behring) and subsequent AAT genotyping of individuals with alpha-1-antytripsin deficiency at protein level, based on reverse hybridization technique.

RESULTS: Measurement of AAT concentration (g/l) by nephelometry have shown normal level in the range of 1.37-1.41 g/l (88%), lower than normal AAT levels in the range of 0.70-0.83 g/l (8.03%), and concentration above the normal levels in the range of 2.28-2.4 g/l (3.88%).

CONCLUSION: Diagnosis in the case of a suspicion of AAT deficiency is carried out by measuring the alpha-1-antitrypsin level in blood and by genotyping of alpha-1-antytripsin allele.

Keywords


alpha-1-antitrypsin deficiency; AAT serum concentration; SERPINA1 gene; nephelometry; reverse line strip hybridization; Republic of Macedonia

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References


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DOI: http://dx.doi.org/10.3889/seejim.2015.20004

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Copyright (c) 2015 Olivija Efinska-Mladenovska, Dejan Trajkov, Aleksandar Petlichkovski, Olgica Sibinovska, Slavica Hristomanova Mitkovska, Mirko Spiroski




    


Published by: Id Design 2012/DOOEL Skopje, Republic of Macedonia