期刊
RESPIRATORY MEDICINE
卷 101, 期 12, 页码 2520-2525出版社
W B SAUNDERS CO LTD
DOI: 10.1016/j.rmed.2007.06.032
关键词
alpha(1)-antitrypsin deficiency; S and Z attete; genotyping; Poland; prevalence; representative sample
Aim: Severe alpha(1)-antitrypsin (AAT) deficiency is one of the most common genetic disorders in Caucasians. The aim of the present study was to assess an unbiased frequencies of PI*S and PI*Z alletes using genotyping of a representative sample from the general population of Poland. Methods: A random sample of age- and gender- stratified residents, aged 20 years or older, was drawn from the municipal directory of Krakow, Poland. The two most common deficiency alletes: PI*S and PI*Z were genotyped with qualitative real-time PCR using degenerative dual-labeled allele-specific fluorescent probes. Results: In the total population of 859 adult subjects (mean age: 49.5 years; range: 20-90), 28 heterozygotes MS, 18 heterozygotes MZ and one homozygote S were diagnosed. The frequency of PI*S allele was 17.5 (95% CI: 11.6-23.9) per 1000; and that of PI*Z was 10.5 (95% CI: 5.8-15.7) per 1000. Therefore, the estimated prevalence of inherited severe AAT deficiency (homozygotes Z) in Poland is 1/9110 (95% Cl: 1/4057-1/29,727). Conclusions: In the whole population of Poland comprising 38 millions, one may expect of about 4189 (95% Cl: 1284-9406) subjects with severe AAT deficiency. These numbers are high enough to consider genetic testing being introduced into a common clinical practice. (C) 2007 Elsevier Ltd. All rights reserved.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据