engleski

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

The aims of the study was to determine AAT genotype by the simple DNA-based method in a group of ten families. AAT genotype was determined by PCR-RFLP in samples taken from each member of ten families (mother, father, an 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 deficiant allele inheritance to be followed-up and assessed. Early diagnosis of a defficient AAT genotype contributes to the success of currently widely available AAT replacement therapy.

a-antitrypsin deficiency; DNA method; genotyping; hereditary disorder; PCR-RFLP

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