Naslov
Genotyping of alpha 1-antitrypsin S and Z alleles

Autori
Žuntar, Irena ; Topić, Elizabeta ; Jurčić, Zvonimir ; Čekada, Senka

Izvornik
Clinical laboratory (1433-6510) 44 (1998), 11; 837-843

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

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

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA