Genotyping of alpha-antitrypsin in ten Croatian families.
OBJECTIVE
The aims of the study were to determine alpha-antitrypsin (AAT) genotype by a simple DNA-based method and to investigate the association of AAT genotype and serum AAT concentration in a group of ten families.


RESULTS
AAT genotype was determined by PCR-RFLP and serum concentration by radial immunodiffusion in samples from each member of ten families (mother, father, and child/children). In the group of parents, five normal genotypes, Pi MM, with a normal serum AAT concentration, and fifteen Pi MZ genotypes, four of them with slightly decreased (43%-66% of the mean) AAT concentration were detected. In the group of children, particular genotypes followed the mode of inheritance. There were eight Pi MZ, three of them with slightly decreased (52%-60% of the mean) AAT concentration, and five Pi ZZ genotypes with considerably decreased (24%-45% of the mean) AAT concentration.


CONCLUSIONS
PCR-RFLP is the method of choice for AAT genotyping. AAT concentration is not a reliable biochemical marker of AAT deficiency. Determination of AAT genotype in family studies allows the risk of deficient allele inheritance to be followed up and assessed. Early diagnosis of a deficient AAT genotype contributes to the success of currently widely available AAT replacement therapy.
Zuntar
I
I
Clinical Institute of Chemistry, Sestre milosrdnice University Hospital and School of Medicine, University of Zagreb, Zagreb, Croatia.izuntar@nana.pharma.hr
Topić
E
E
Jurcić
Z
Z
Zubcić
A
A
D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D017523:Croatia; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D005779:Immunodiffusion; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D000515:alpha 1-Antitrypsin / Q000235:genetics* / Q000378:metabolism; D019896:alpha 1-Antitrypsin Deficiency / Q000097:blood / Q000235:genetics*
D000515:alpha 1-Antitrypsin