Title:

Rapid method of alpha1-antitrypsin genotyping and its application to sreening fo PI*Z and PI*S mutations in a random sample of Krakow population

Author:

Kaczor, Marcin

Subject:

alpha1-antitrypsin ; random sample of population ; qualitative real-time PCR ; deficiency alleles PI*S and PI*Z

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.

Place of publishing:

Kraków

Level of degree:

2 - studia doktoranckie

Degree discipline:

genetyka

Degree grantor:

Wydział Lekarski

Promoter:

Sanak, Marek

Date:

2006

Date issued:

2006

Type:

Praca doktorska

Call number:

ZB-105324

Language:

pol

Access rights:

nieograniczony