Search for: [Abstract = "Severe alpha1\-antitrypsin \(AAT\) deficiency causes the early\-onset emphysema, COPD and liver disorders. The aim of this study was to assess the unbiased frequencies of deficiency alleles PI\* S and PI\* Z using developed rapid genetic tests and the representative, random sample of Krakow population. Amongl,500 randomly selected residents of Krakow, 550 inhabitants participated in our study \(36,7%\). Additionally, genotyping of 309 samples of DNA was completed from a randomly selected residents of Kazimierz, one ofK.rakow's districts. Genotyping was conducted with qualitative realtime PCR and dual\-labeled fluorescent probes. A validation was accomplished by confirmation of genotyping results using reference assay \(RFLP\) and by external interlaboratory control. The frequency of PI\*S allele was 1.75% \(95% CI\: 1.18 \- 2.48\) and PI\*Z \- 1.05% \(95% CI\: 0.62 \- 1.65\). In Krakow population the prevalence of 83 \(95% CI\: 25 \- 187\) subjects with severe hereditary AA T deficiency \(homozygotes Z\) is expected and in Poland it is of about 4 189 \(95% CI\: 1 284 \- 9 406\). The estimated number of partial deficiencies \(MS, MZ, SZ, SS\) is 41 618 \(95% CI\: 24 879 \- 60 564\) in Krakow population and 2 098 435 \(95% CI\: 1 255 905 \- 3 050 061 in Poland."]

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