title: Age of SERPINA1 gene PI Z mutation: Swedish and Latvian population analysis.
abstract: Alpha 1-antitrypsin (A1AT) deficiency, one of the most common inborn errors of metabolism in Caucasians, is characterized by a low serum concentration of A1AT and a high risk of pulmonary emphysema and liver disease. The allelic frequency for the most common protease inhibitor (PI) Z mutation in the SERPINA1 gene is 2-5% in Caucasians of European descent. The objective of our study was to estimate the PI Z mutation age using molecular analysis in Latvian and Swedish populations, which have the highest frequency of PI Z mutation. DNA samples of heterozygous and homozygous PI Z allele carriers from Latvia (n = 21) and Sweden (n = 65) were analysed; 113 unrelated healthy donors from Latvia were used as a control group. MALDI-TOF analysis was performed on all samples. Pairwise Fst was computed to compare the PI Z mutation ages between the two populations and controls. A p value less than 0.05 was considered significant. Analysis of non-recombinant SNPs revealed that the PI Z mutation age was 2902 years in Latvia (SD 1983) and 2362 years in Sweden (SD 1614) which correlates with previous studies based on microsatellite analysis.
authors.affiliation: Scientific laboratory of Molecular Genetics, RSU, Riga, Latvia. baiba.lace@gmail.com
authors.forename: B
authors.initials: B
authors.lastname: Lace
authors.forename: T
authors.initials: T
authors.lastname: Sveger
authors.forename: A
authors.initials: A
authors.lastname: Krams
authors.forename: G
authors.initials: G
authors.lastname: Cernevska
authors.forename: A
authors.initials: A
authors.lastname: Krumina
mesh_terms: D005838:Genotype; D006801:Humans; D007844:Latvia; D009154:Mutation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011480:Protease Inhibitors / Q000378:metabolism*; D013548:Sweden; D044465:White People / Q000235:genetics*; D000515:alpha 1-Antitrypsin / Q000235:genetics*
chemical_list: D011480:Protease Inhibitors; C043392:SERPINA1 protein, human; D000515:alpha 1-Antitrypsin