Description
Title: Ocena prevalence of dominantly defiant alleles of the alpha-1 antitrypsin in the population of the Mazowiecki County results of the most recent tests done on newer models
Abstract: Alpha-1 antitrypsin deficiency (A1ATD) is one of the three genetic conditions that affect Caucasians the most frequently. It significantly raises the risk of developing obstructive lung diseases that worsen over time, primarily chronic obstructive pulmonary disease. There are few studies with large enough sample sizes that are representative of the entire Polish population, so there are few data on the prevalence of A1ATD in Poland. Here, we present the preliminary findings from the newborn screening in the Mazovia (Central Poland) region regarding the incidence of A1AT main deficiency alleles. From the dry blood spots (DBS) samples of 658 newborns, real-time PCR genotyping and A1AT blood concentration measurement by nephelometry were carried out. The deficiency alleles PI*Z and PI*S were found in 28 kids, with 2.8% and 1.5% respectively. Their presence was associated with a significantly lower blood level of A1AT. For PI*Z and 7.6/1000 (95% CI 1.7-13.5) deficiency alleles, respectively, the estimated incidence was 13,7/1000 (95% CI 5.8-21.5). The main deficiency genotype ZZ had a calculated prevalence of 1/5345. It is still being studied.
Keywords: alpha-1 antitrypsin deficiency; S allele, Z allele; genotyping, blood concentration, DBS, prevalence, newborns, Poland
Paper Quality: SCOPUS / Web of Science Level Research Paper
Subject: Advances in Respiratory Medicine
Writer Experience: 20+ Years
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