Analysis of CFTR Gene Variants in Idiopathic Bronchiectasis in Serbian Children
2013
Autori
Milosević, KatarinaNikolić, Aleksandra
Divac Rankov, Aleksandra
Ljujić, Mila
Nestorović, Branimir
Radojković, Dragica
Članak u časopisu (Objavljena verzija)
Metapodaci
Prikaz svih podataka o dokumentuApstrakt
This study has investigated a potential role of common Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene variants in the etiology of noncystic fibrosis bronchiectasis in Serbian children. The study has encompassed 48 patients (19 male and 29 female, aged between 5 and 18 years, median age 10.6 +/- 3.3), diagnosed with idiopathic bronchiectasis based on high-resolution computed tomography of thorax and pathologic examination of lobectomy materials. The CFTR gene analysis was performed on genomic DNA extracted from peripheral blood samples of patients by polymerase chain reaction (PCR)-Mediated Site-Directed Mutagenesis method, Denaturing Gradient Gel Electrophoresis method, and DNA sequencing. Mutation c.1521_1523delCTT (F508del) was detected with an allelic frequency of 1.0%, and c.224G gt A (R75Q) variant. Carriers of c.1210-12T[5] (IVS8-5T) allele were significantly more common than in the general population (10.4% vs. 5.0%, P = 0.0302). The frequency of homozygotes for... Met 470 allele was higher in patients than in the general population (33% vs. 20%), while heterozygotes for p. Met470Val were less frequent (31% vs. 50%), and this difference was statistically significant (P = 0.0222). The results obtained in this study indicate involvement of 2 common CFTR variants, c. 1210-12T[5] and c. 1408A, in idiopathic bronchiectasis in children, but this observation should be further confirmed by more extensive analysis of the CFTR gene in a larger group of patients.
Izvor:
Pediatric Allergy Immunology and Pulmonology, 2013, 26, 2, 93-98Izdavač:
- Mary Ann Liebert, Inc, New Rochelle
Finansiranje / projekti:
- Kompleksne bolesti kao model sistem za proučavanje modulacije fenotipa-strukturna i funkcionalna analiza molekularnih biomarkera (RS-MESTD-Basic Research (BR or ON)-173008)
DOI: 10.1089/ped.2013.0238
ISSN: 2151-321X
WoS: 000320998900007
Scopus: 2-s2.0-84879096824
Institucija/grupa
Institut za molekularnu genetiku i genetičko inženjerstvoTY - JOUR AU - Milosević, Katarina AU - Nikolić, Aleksandra AU - Divac Rankov, Aleksandra AU - Ljujić, Mila AU - Nestorović, Branimir AU - Radojković, Dragica PY - 2013 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/652 AB - This study has investigated a potential role of common Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene variants in the etiology of noncystic fibrosis bronchiectasis in Serbian children. The study has encompassed 48 patients (19 male and 29 female, aged between 5 and 18 years, median age 10.6 +/- 3.3), diagnosed with idiopathic bronchiectasis based on high-resolution computed tomography of thorax and pathologic examination of lobectomy materials. The CFTR gene analysis was performed on genomic DNA extracted from peripheral blood samples of patients by polymerase chain reaction (PCR)-Mediated Site-Directed Mutagenesis method, Denaturing Gradient Gel Electrophoresis method, and DNA sequencing. Mutation c.1521_1523delCTT (F508del) was detected with an allelic frequency of 1.0%, and c.224G gt A (R75Q) variant. Carriers of c.1210-12T[5] (IVS8-5T) allele were significantly more common than in the general population (10.4% vs. 5.0%, P = 0.0302). The frequency of homozygotes for Met 470 allele was higher in patients than in the general population (33% vs. 20%), while heterozygotes for p. Met470Val were less frequent (31% vs. 50%), and this difference was statistically significant (P = 0.0222). The results obtained in this study indicate involvement of 2 common CFTR variants, c. 1210-12T[5] and c. 1408A, in idiopathic bronchiectasis in children, but this observation should be further confirmed by more extensive analysis of the CFTR gene in a larger group of patients. PB - Mary Ann Liebert, Inc, New Rochelle T2 - Pediatric Allergy Immunology and Pulmonology T1 - Analysis of CFTR Gene Variants in Idiopathic Bronchiectasis in Serbian Children EP - 98 IS - 2 SP - 93 VL - 26 DO - 10.1089/ped.2013.0238 ER -
@article{ author = "Milosević, Katarina and Nikolić, Aleksandra and Divac Rankov, Aleksandra and Ljujić, Mila and Nestorović, Branimir and Radojković, Dragica", year = "2013", abstract = "This study has investigated a potential role of common Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene variants in the etiology of noncystic fibrosis bronchiectasis in Serbian children. The study has encompassed 48 patients (19 male and 29 female, aged between 5 and 18 years, median age 10.6 +/- 3.3), diagnosed with idiopathic bronchiectasis based on high-resolution computed tomography of thorax and pathologic examination of lobectomy materials. The CFTR gene analysis was performed on genomic DNA extracted from peripheral blood samples of patients by polymerase chain reaction (PCR)-Mediated Site-Directed Mutagenesis method, Denaturing Gradient Gel Electrophoresis method, and DNA sequencing. Mutation c.1521_1523delCTT (F508del) was detected with an allelic frequency of 1.0%, and c.224G gt A (R75Q) variant. Carriers of c.1210-12T[5] (IVS8-5T) allele were significantly more common than in the general population (10.4% vs. 5.0%, P = 0.0302). The frequency of homozygotes for Met 470 allele was higher in patients than in the general population (33% vs. 20%), while heterozygotes for p. Met470Val were less frequent (31% vs. 50%), and this difference was statistically significant (P = 0.0222). The results obtained in this study indicate involvement of 2 common CFTR variants, c. 1210-12T[5] and c. 1408A, in idiopathic bronchiectasis in children, but this observation should be further confirmed by more extensive analysis of the CFTR gene in a larger group of patients.", publisher = "Mary Ann Liebert, Inc, New Rochelle", journal = "Pediatric Allergy Immunology and Pulmonology", title = "Analysis of CFTR Gene Variants in Idiopathic Bronchiectasis in Serbian Children", pages = "98-93", number = "2", volume = "26", doi = "10.1089/ped.2013.0238" }
Milosević, K., Nikolić, A., Divac Rankov, A., Ljujić, M., Nestorović, B.,& Radojković, D.. (2013). Analysis of CFTR Gene Variants in Idiopathic Bronchiectasis in Serbian Children. in Pediatric Allergy Immunology and Pulmonology Mary Ann Liebert, Inc, New Rochelle., 26(2), 93-98. https://doi.org/10.1089/ped.2013.0238
Milosević K, Nikolić A, Divac Rankov A, Ljujić M, Nestorović B, Radojković D. Analysis of CFTR Gene Variants in Idiopathic Bronchiectasis in Serbian Children. in Pediatric Allergy Immunology and Pulmonology. 2013;26(2):93-98. doi:10.1089/ped.2013.0238 .
Milosević, Katarina, Nikolić, Aleksandra, Divac Rankov, Aleksandra, Ljujić, Mila, Nestorović, Branimir, Radojković, Dragica, "Analysis of CFTR Gene Variants in Idiopathic Bronchiectasis in Serbian Children" in Pediatric Allergy Immunology and Pulmonology, 26, no. 2 (2013):93-98, https://doi.org/10.1089/ped.2013.0238 . .