engleski

Genotyping of alpha-1 antitrypsin S and Z alleles

alpha-1 antitrypsin deficiency is an inherited disorder. Deficient alleles associated with low serum levels and 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 alpha-1 antitrypsin genotyping of the two common deficient alleles, Pi S and Z, using PCR-RFLP analysis. alpha-1 antitrypsin genotype by PCR-RFLP method and alpha-1 antitrypsin serum concentration by radial immunodiffusion method were determined in samples of twelve patients. Two normal genotypes, Pi MM, with a normal serum concentration, and two Pi ZZ genotypes with a considerably decreased (65 percent and 81 percent) alpha-1 antitrypsin concentration were detected. There were eight Pi MZ genotypes, five of them with a slightly decreased (34-55 percent) alpha-1 antitrypsin concentration. The PCR-RFLP method for alpha-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

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