Pregled bibliografske jedinice broj: 6226
PCR genotyping of the two common alpha1 antitrypsine deficiency alleles Pi Z and Pi S
PCR genotyping of the two common alpha1 antitrypsine deficiency alleles Pi Z and Pi S // First European-American Intensive Course in PCR Based Clinical and Forensic Testing : Laboratory Manual / Burgi, Dean S. (ur.).
Split: Laboratorij za kliničku i molekularnu genetiku, Klinička bolnica, 1997. str. 180-181 (pozvano predavanje, međunarodna recenzija, sažetak, znanstveni)
CROSBI ID: 6226 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
PCR genotyping of the two common alpha1 antitrypsine deficiency alleles Pi Z and Pi S
Autori
Topić, Elizabeta ; Žuntar, Irena ; Štefanović, Mario
Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni
Izvornik
First European-American Intensive Course in PCR Based Clinical and Forensic Testing : Laboratory Manual
/ Burgi, Dean S. - Split : Laboratorij za kliničku i molekularnu genetiku, Klinička bolnica, 1997, 180-181
Skup
First European-American Intensive Course in PCR Based Clinical and Forensic Testing
Mjesto i datum
Split, Hrvatska, 23.09.1997. - 03.10.1997
Vrsta sudjelovanja
Pozvano predavanje
Vrsta recenzije
Međunarodna recenzija
Ključne riječi
alpha1-antitrypsin; gene; defficiency alleles; Pi Z; Pi S; PCR-RFLP
Sažetak
Alpha1-antitrypsin is important protease inhibitor . The gene is located on chromosome 14. Some deficiency alleles are associated with low levels of alpha1-antitrypsin in serum and can either be linked to liver disease and/or to early onset emphysema. The most common deficiency allele are Pi Z (single base substitution in exon 5) and Pi S (single base substitution in exon 3). Here we described the PCR-RFLP protocol for the detection of Z and S mutation in alpha1- antitrypsin gene using mutated primers.
Izvorni jezik
Engleski
Znanstvena područja
Temeljne medicinske znanosti
