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Kaczor, Marcin
2006
Praca doktorska
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.
Kraków
2 - studia doktoranckie
genetyka
Wydział Lekarski
Sanak, Marek
oai:dl.cm-uj.krakow.pl:1087
ZB-105324
pol
nieograniczony
Jun 26, 2023
Nov 21, 2012
1 865
78
http://dl.cm-uj.krakow.pl:8080/publication/1087
RDF
OAI-PMH
Surmiak, Marcin
Citation style: chicago-author-date iso690-author-date
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