Novel cftr gene sequence variation in Serbian patient with idiopathic disseminated bronchiectasis
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2010
Authors
Nikolić, AleksandraMilosević, Katarina
Divac Rankov, Aleksandra
Ljujić, Mila
Grković, Slobodanka
Nestorović, Branimir
Article (Published version)
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This paper reports a novel Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene variant, 1811+1G - gt T, detected in a 5-year-old girl diagnosed with idiopathic disseminated bronchiectasis and negative sweat chloride test (17 mmol/L). The performed CFTR gene mutation analysis included detection of the F508del mutation, analysis of Tn polymorphism and screening of CFTR exons 3, 10 and 11. The CFTR gene screening has shown the altered band pattern in exon 11. The DNA sequencing of CFTR exon 11 revealed the presence of the novel sequence variation 1811+1G - gt T in heterozygous state. This sequence variation was not found in any of 100 control alleles, analyzed by polymerase chain reaction - restriction fragment length polymorphism method. The novel sequence variation 1811+1G - gt T is located at the splicing site at the boundary of exon 11 and intron 11 and might be either a sequence variation or a splicing site defect. lt /.
Source:
Fetal and Pediatric Pathology, 2010, 29, 2, 95-98Publisher:
- Taylor & Francis Inc, Philadelphia
Funding / projects:
- Strukturalni elementi genoma u modulaciji fenotipa (RS-MESTD-MPN2006-2010-143051)
DOI: 10.3109/15513811003620815
ISSN: 1551-3815
PubMed: 20334484
WoS: 000275954100005
Scopus: 2-s2.0-77950255816
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Institut za molekularnu genetiku i genetičko inženjerstvoTY - JOUR AU - Nikolić, Aleksandra AU - Milosević, Katarina AU - Divac Rankov, Aleksandra AU - Ljujić, Mila AU - Grković, Slobodanka AU - Nestorović, Branimir PY - 2010 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/466 AB - This paper reports a novel Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene variant, 1811+1G - gt T, detected in a 5-year-old girl diagnosed with idiopathic disseminated bronchiectasis and negative sweat chloride test (17 mmol/L). The performed CFTR gene mutation analysis included detection of the F508del mutation, analysis of Tn polymorphism and screening of CFTR exons 3, 10 and 11. The CFTR gene screening has shown the altered band pattern in exon 11. The DNA sequencing of CFTR exon 11 revealed the presence of the novel sequence variation 1811+1G - gt T in heterozygous state. This sequence variation was not found in any of 100 control alleles, analyzed by polymerase chain reaction - restriction fragment length polymorphism method. The novel sequence variation 1811+1G - gt T is located at the splicing site at the boundary of exon 11 and intron 11 and might be either a sequence variation or a splicing site defect. lt /. PB - Taylor & Francis Inc, Philadelphia T2 - Fetal and Pediatric Pathology T1 - Novel cftr gene sequence variation in Serbian patient with idiopathic disseminated bronchiectasis EP - 98 IS - 2 SP - 95 VL - 29 DO - 10.3109/15513811003620815 ER -
@article{ author = "Nikolić, Aleksandra and Milosević, Katarina and Divac Rankov, Aleksandra and Ljujić, Mila and Grković, Slobodanka and Nestorović, Branimir", year = "2010", abstract = "This paper reports a novel Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene variant, 1811+1G - gt T, detected in a 5-year-old girl diagnosed with idiopathic disseminated bronchiectasis and negative sweat chloride test (17 mmol/L). The performed CFTR gene mutation analysis included detection of the F508del mutation, analysis of Tn polymorphism and screening of CFTR exons 3, 10 and 11. The CFTR gene screening has shown the altered band pattern in exon 11. The DNA sequencing of CFTR exon 11 revealed the presence of the novel sequence variation 1811+1G - gt T in heterozygous state. This sequence variation was not found in any of 100 control alleles, analyzed by polymerase chain reaction - restriction fragment length polymorphism method. The novel sequence variation 1811+1G - gt T is located at the splicing site at the boundary of exon 11 and intron 11 and might be either a sequence variation or a splicing site defect. lt /.", publisher = "Taylor & Francis Inc, Philadelphia", journal = "Fetal and Pediatric Pathology", title = "Novel cftr gene sequence variation in Serbian patient with idiopathic disseminated bronchiectasis", pages = "98-95", number = "2", volume = "29", doi = "10.3109/15513811003620815" }
Nikolić, A., Milosević, K., Divac Rankov, A., Ljujić, M., Grković, S.,& Nestorović, B.. (2010). Novel cftr gene sequence variation in Serbian patient with idiopathic disseminated bronchiectasis. in Fetal and Pediatric Pathology Taylor & Francis Inc, Philadelphia., 29(2), 95-98. https://doi.org/10.3109/15513811003620815
Nikolić A, Milosević K, Divac Rankov A, Ljujić M, Grković S, Nestorović B. Novel cftr gene sequence variation in Serbian patient with idiopathic disseminated bronchiectasis. in Fetal and Pediatric Pathology. 2010;29(2):95-98. doi:10.3109/15513811003620815 .
Nikolić, Aleksandra, Milosević, Katarina, Divac Rankov, Aleksandra, Ljujić, Mila, Grković, Slobodanka, Nestorović, Branimir, "Novel cftr gene sequence variation in Serbian patient with idiopathic disseminated bronchiectasis" in Fetal and Pediatric Pathology, 29, no. 2 (2010):95-98, https://doi.org/10.3109/15513811003620815 . .