Molecular Diagnostics of Cystic Fibrosis in Serbia: Our Approach to Meet the Diagnostic Challenges
Нема приказа
Аутори
Divac Rankov, AleksandraKušić-Tišma, Jelena
Ljujić, Mila
Nikolić, Aleksandra
Milosević, Katarina
Dautović, Gordana Vilotijevic
Radojković, Dragica
Чланак у часопису (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт
Background: High heterogeneity levels of cystic fibrosis transmembrane regulator (CFTR) are manifested in different populations. The aim of this study was to analyze comprehensively all mutations in the CFTR gene in Serbian patients with cystic fibrosis (CF) and to use the findings to propose a testing algorithm for the Serbian population. Materials and Methods: Cascade screening was employed to detect mutations in the CFTR gene of 90 patients suspected of having CF, using polymerase chain reaction (PCR), PCR-restriction fragment length polymorphism or PCR-mediated site directed mutagenesis, Sanger sequencing, and/or next-generation sequencing. Results: This is the first report for the Serbian CF population where single nucleotide polymorphisms, small insertions and deletions, large genome rearrangements, and copy number variants were analyzed in detail. A high degree of heterogeneity within the CFTR was documented among our cohort of 90 patients. We identified 19 CF-causing mutations ...and 3 with varying consequences, including a previously unreported deletion of the entire exon 11. Conclusion: Considering the spectrum and frequency of mutations found, we recommend a multistep sequencing algorithm in combination with evaluation of large rearrangements for future analyses of the CFTR gene in the Serbian population.
Кључне речи:
next-generation sequencing (NGS) / genetic testing / frequency of CFTR gene mutations / cystic fibrosis / copy number variants (CNV) and CFTRИзвор:
Genetic Testing and Molecular Biomarkers, 2020, 24, 4, 212-216Издавач:
- Mary Ann Liebert, Inc, New Rochelle
DOI: 10.1089/gtmb.2019.0171
ISSN: 1945-0265
PubMed: 32286879
WoS: 000525469400007
Scopus: 2-s2.0-85083409988
Институција/група
Institut za molekularnu genetiku i genetičko inženjerstvoTY - JOUR AU - Divac Rankov, Aleksandra AU - Kušić-Tišma, Jelena AU - Ljujić, Mila AU - Nikolić, Aleksandra AU - Milosević, Katarina AU - Dautović, Gordana Vilotijevic AU - Radojković, Dragica PY - 2020 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/1381 AB - Background: High heterogeneity levels of cystic fibrosis transmembrane regulator (CFTR) are manifested in different populations. The aim of this study was to analyze comprehensively all mutations in the CFTR gene in Serbian patients with cystic fibrosis (CF) and to use the findings to propose a testing algorithm for the Serbian population. Materials and Methods: Cascade screening was employed to detect mutations in the CFTR gene of 90 patients suspected of having CF, using polymerase chain reaction (PCR), PCR-restriction fragment length polymorphism or PCR-mediated site directed mutagenesis, Sanger sequencing, and/or next-generation sequencing. Results: This is the first report for the Serbian CF population where single nucleotide polymorphisms, small insertions and deletions, large genome rearrangements, and copy number variants were analyzed in detail. A high degree of heterogeneity within the CFTR was documented among our cohort of 90 patients. We identified 19 CF-causing mutations and 3 with varying consequences, including a previously unreported deletion of the entire exon 11. Conclusion: Considering the spectrum and frequency of mutations found, we recommend a multistep sequencing algorithm in combination with evaluation of large rearrangements for future analyses of the CFTR gene in the Serbian population. PB - Mary Ann Liebert, Inc, New Rochelle T2 - Genetic Testing and Molecular Biomarkers T1 - Molecular Diagnostics of Cystic Fibrosis in Serbia: Our Approach to Meet the Diagnostic Challenges EP - 216 IS - 4 SP - 212 VL - 24 DO - 10.1089/gtmb.2019.0171 ER -
@article{ author = "Divac Rankov, Aleksandra and Kušić-Tišma, Jelena and Ljujić, Mila and Nikolić, Aleksandra and Milosević, Katarina and Dautović, Gordana Vilotijevic and Radojković, Dragica", year = "2020", abstract = "Background: High heterogeneity levels of cystic fibrosis transmembrane regulator (CFTR) are manifested in different populations. The aim of this study was to analyze comprehensively all mutations in the CFTR gene in Serbian patients with cystic fibrosis (CF) and to use the findings to propose a testing algorithm for the Serbian population. Materials and Methods: Cascade screening was employed to detect mutations in the CFTR gene of 90 patients suspected of having CF, using polymerase chain reaction (PCR), PCR-restriction fragment length polymorphism or PCR-mediated site directed mutagenesis, Sanger sequencing, and/or next-generation sequencing. Results: This is the first report for the Serbian CF population where single nucleotide polymorphisms, small insertions and deletions, large genome rearrangements, and copy number variants were analyzed in detail. A high degree of heterogeneity within the CFTR was documented among our cohort of 90 patients. We identified 19 CF-causing mutations and 3 with varying consequences, including a previously unreported deletion of the entire exon 11. Conclusion: Considering the spectrum and frequency of mutations found, we recommend a multistep sequencing algorithm in combination with evaluation of large rearrangements for future analyses of the CFTR gene in the Serbian population.", publisher = "Mary Ann Liebert, Inc, New Rochelle", journal = "Genetic Testing and Molecular Biomarkers", title = "Molecular Diagnostics of Cystic Fibrosis in Serbia: Our Approach to Meet the Diagnostic Challenges", pages = "216-212", number = "4", volume = "24", doi = "10.1089/gtmb.2019.0171" }
Divac Rankov, A., Kušić-Tišma, J., Ljujić, M., Nikolić, A., Milosević, K., Dautović, G. V.,& Radojković, D.. (2020). Molecular Diagnostics of Cystic Fibrosis in Serbia: Our Approach to Meet the Diagnostic Challenges. in Genetic Testing and Molecular Biomarkers Mary Ann Liebert, Inc, New Rochelle., 24(4), 212-216. https://doi.org/10.1089/gtmb.2019.0171
Divac Rankov A, Kušić-Tišma J, Ljujić M, Nikolić A, Milosević K, Dautović GV, Radojković D. Molecular Diagnostics of Cystic Fibrosis in Serbia: Our Approach to Meet the Diagnostic Challenges. in Genetic Testing and Molecular Biomarkers. 2020;24(4):212-216. doi:10.1089/gtmb.2019.0171 .
Divac Rankov, Aleksandra, Kušić-Tišma, Jelena, Ljujić, Mila, Nikolić, Aleksandra, Milosević, Katarina, Dautović, Gordana Vilotijevic, Radojković, Dragica, "Molecular Diagnostics of Cystic Fibrosis in Serbia: Our Approach to Meet the Diagnostic Challenges" in Genetic Testing and Molecular Biomarkers, 24, no. 4 (2020):212-216, https://doi.org/10.1089/gtmb.2019.0171 . .