Naslov
Genotyping of alpha-1 antitrypsin S and Z alleles

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

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Labor Actuell Supplementum, Proceedings of the 5th International Congress of Clinical Chemistry and Laboratory Medicine, ALPS-ADRIA 98. / Schneiderka, Peter - Brno : Boehringer Mannheim, Czech, spol.s r.o., 1998, 36-36

Skup
5th International Congress of Clinical Chemistry and Laboratory Medicine, ALPS-ADRIA 98.

Mjesto i datum
Karlovy Vary, Češka Republika, 24.09.1998. - 26.09.1998

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Genotyping; Alpha-1 antitrypsin; S and Z alleles

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA