Acta Pharm. 51 (2001) 11-19

Genotyping of alpha-antitrypsin S and Z alleles in deficient families in Croatia

IRENA ZUNTAR,^1,2* ELIZABETA TOPIC¹ and  ZVONIMIR JURCIC³

¹Clinical Institute of Chemistry, Sestre milosrdnice University Hospital, Zagreb, Croatia
²Department of Analytical Chemistry, Faculty of Pharmacy and Biochemistry, University of Zagreb, Zagreb, Croatia
³Department of Pediatrics, Sestre milosrdnice University Hospital, Zagreb, Croatia

The aim of the study was to determine AAT genotype by the simple DNA-based method in a group of ten Croatian families. AAT genotype was determined by PCR-RFLP in samples taken from each member of the ten families (mother, father and child/children). In the group of parents, five normal genotypes, Pi MM and fifteen Pi MZ genotypes, were detected. In the group of children, particular genotypes followed the mode of inheritance. There were eight Pi MZ, and five Pi ZZ genotypes. PCR-RFLP was found to be the method of choice for AAT genotyping. Determination of AAT genotype in family studies enables the risk of deficient allele inheritance to be followed-up and assessed. Early diagnosis of a deficient AAT genotype contributes to the success of currently widely available AAT replacement therapy.

Keywords: alpha-antitrypsin deficiency, DNA method, genotyping, hereditary disorder, PCR-RFLP