engleski

Genotyping of alpha 1-antitrypsin S and Z alleles

1-antitrypsin deficiency is an inhereted disorder. Deficient alleles associated with low serum levels can either be linked to liver disease and/or to early onset emphysema. The aim of our study was to introduce a rapid and simple method of 1-antitrypsin genotyping of the two common deficient alleles, Pi S and Z , using PCR-RFLP analysis. 1-antitrypsin genotype was determined by PCR-RFLP and serum concentration by radial immunodiffusion in samples from twelve patients. Two normal genotypes, Pi MM, with a normal serum concentrations, and two Pi ZZ genotypes with a considerably decreased (19 percent and 35 percent of the mean range) 1-antitrypsin concentration were detected. There were eight Pi MZ genotypes, five of them with a slightly decreased (45-66 percent of the mean range) 1-antitrypsin concentration. The PCR-RFLP method for a 1-antitrypsin genotyping was found to be simple and rapid, thus being suitable for laboratory routine by ensuring appropriate quality control, and for genetic counseling in prenatal diagnosis.

Genotyping; alpha 1-antitrypsin S and Z alleles; alpha 1 antitrysin deficiency

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