Naslov
Genotyping and phenotyping of alpha-1-antitrypsin in family studies

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

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

Izvornik
Pediatria Croatica, Suppl. 3, Drugi hrvatski kongres iz humane genetike / Lokar-Kolbas, Renata - Zagreb : Klinika za dječje bolesti, 1998, 54-54

Skup
Drugi hrvatski kongres iz humane genetike s međunarodnim sudjelovanjem

Mjesto i datum
Zagreb, Hrvatska, 21.10.1998. - 24.10.1998

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Genotyping; Phenotyping; Alpha-1-antitrypsin

Sažetak
Deficiency alleles of alpha-1-antitrypsin (AAT) are associated with low serum levels of AAT and can be either linked to liver disease and/or to early onset emphysema. The most common deficiency alleles are Pi S and Z. Pi Z genotype is characterized by G  A substitution in exon 5 (342 GluLys) and Pi S genotype by substitution of base A  T in exon 3 (264 Glu Val). The aim of this study was to determinate and compare the concordance between AAT phenotype and genotype. In five families (mother, father and child) phenotypes were determined by isoelectric focusing (Pharmacia, PAG-plate pH 4.0-5.0) and genotypes by PCR-RFLP. The serum AAT concentration was measured by RID method. Results: Family A was MM, MZ and MZ phenotype and genotype for father, mother and child. Child of this family had slightly decreased AAT concentration. Family B was MZ, MZ, ZZ phenotype and genotype for father, mother and child. Child in this family has markedly and mother slightly decreased AAT concentration. Discrepancy between phenotype-genotype was found in family C; a boy presented ZZ phenotype but MZ genotype. His mother was MM and father MZ genotype and phenotype. The concentration of AAT for father and child of family C was markedly decreased. Results of family C reassessment indicated that the discrepancy was not due to sample mishandling or technical difficulties but a true discordance. Family D and E was MZ, MZ and ZZ phenotype and genotype for father, mother and child respectively. The AAT concentration in this two families was markedly decreased only in child. These preliminary results strongly indicated the need of both phenotype and genotype determination including family studies. The discrepancy between genotype and phenotype should be thoroughly studied to identify the possible causes of changes occurring along the gene to protein cycle.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA