Assessment of Single Nucleotide Polymorphisms in Screening 52 DNA Repair and Cell Cycle Control Genes in Fanconi Anemia Patients
Аутори
Petrović, SandraLeskovac, Andreja
Joksić, Ivana
Vujić, Dragana
Valenta-Šobot, Ana
Filipović, Jelena G.
Joksić, Gordana
Чланак у часопису (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт
Fanconi anemia (FA) is a rare genetically heterogeneous disorder associated with bone marrow failure, birth defects and cancer susceptibility. Apart from the disease-causing mutations in FANC genes, the identification of specific DNA variations, such as single nucleotide polymorphisms (SNPs), in other candidate genes may lead to a better clinical description of this condition enabling individualized treatment with improvement of the prognosis. In this study, we have assessed 95 SNPs located in 52 key genes involved in base excision repair (BER), nucleotide excision repair (NER), mismatch repair (MMR), double strand break (DSB) repair and cell cycle control using a DNA repair chip (Asper Biotech, Estonia) which includes most of the common variants for the candidate genes. The SNP genotyping was performed in five FA-D2 patients and in one FA-A patient. The polymorphisms studied were synonymous (n=10), nonsynonymous (missense) (n=52) and in non-coding regions of the genome (introns and 5 ...and 3 untranslated regions (UTR)) (n=33). Polymorphisms found at the homozygous state are selected for further analysis. Our results have shown a significant inter-individual variability among patients in the type and the frequency of SNPs and also elucidate the need for further studies of polymorphisms located in ATM, APEX APE 1, XRCC1, ERCC2, MSH3, PARP4, NBS1, BARD1, CDKN1B, TP53 and TP53BP1 which may be of great importance for better clinical description of FA. In addition, the present report recommends the use of SNPs as predictive and prognostic genetic markers to individualize therapy of FA patients.
Кључне речи:
DNA repair / Fanconi anemia / single nucleotide polymorphismsИзвор:
Genetika, 2015, 47, 2, 695-710Финансирање / пројекти:
- Радиосензитивност хуманог генома (RS-MESTD-Basic Research (BR or ON)-173046)
DOI: 10.2298/GENSR1502695P
ISSN: 0534-0012; 1820-6069
WoS: 000363055800028
Scopus: 2-s2.0-84945980289
Колекције
Институција/група
VinčaTY - JOUR AU - Petrović, Sandra AU - Leskovac, Andreja AU - Joksić, Ivana AU - Vujić, Dragana AU - Valenta-Šobot, Ana AU - Filipović, Jelena G. AU - Joksić, Gordana PY - 2015 UR - https://vinar.vin.bg.ac.rs/handle/123456789/777 AB - Fanconi anemia (FA) is a rare genetically heterogeneous disorder associated with bone marrow failure, birth defects and cancer susceptibility. Apart from the disease-causing mutations in FANC genes, the identification of specific DNA variations, such as single nucleotide polymorphisms (SNPs), in other candidate genes may lead to a better clinical description of this condition enabling individualized treatment with improvement of the prognosis. In this study, we have assessed 95 SNPs located in 52 key genes involved in base excision repair (BER), nucleotide excision repair (NER), mismatch repair (MMR), double strand break (DSB) repair and cell cycle control using a DNA repair chip (Asper Biotech, Estonia) which includes most of the common variants for the candidate genes. The SNP genotyping was performed in five FA-D2 patients and in one FA-A patient. The polymorphisms studied were synonymous (n=10), nonsynonymous (missense) (n=52) and in non-coding regions of the genome (introns and 5 and 3 untranslated regions (UTR)) (n=33). Polymorphisms found at the homozygous state are selected for further analysis. Our results have shown a significant inter-individual variability among patients in the type and the frequency of SNPs and also elucidate the need for further studies of polymorphisms located in ATM, APEX APE 1, XRCC1, ERCC2, MSH3, PARP4, NBS1, BARD1, CDKN1B, TP53 and TP53BP1 which may be of great importance for better clinical description of FA. In addition, the present report recommends the use of SNPs as predictive and prognostic genetic markers to individualize therapy of FA patients. T2 - Genetika T1 - Assessment of Single Nucleotide Polymorphisms in Screening 52 DNA Repair and Cell Cycle Control Genes in Fanconi Anemia Patients VL - 47 IS - 2 SP - 695 EP - 710 DO - 10.2298/GENSR1502695P ER -
@article{ author = "Petrović, Sandra and Leskovac, Andreja and Joksić, Ivana and Vujić, Dragana and Valenta-Šobot, Ana and Filipović, Jelena G. and Joksić, Gordana", year = "2015", abstract = "Fanconi anemia (FA) is a rare genetically heterogeneous disorder associated with bone marrow failure, birth defects and cancer susceptibility. Apart from the disease-causing mutations in FANC genes, the identification of specific DNA variations, such as single nucleotide polymorphisms (SNPs), in other candidate genes may lead to a better clinical description of this condition enabling individualized treatment with improvement of the prognosis. In this study, we have assessed 95 SNPs located in 52 key genes involved in base excision repair (BER), nucleotide excision repair (NER), mismatch repair (MMR), double strand break (DSB) repair and cell cycle control using a DNA repair chip (Asper Biotech, Estonia) which includes most of the common variants for the candidate genes. The SNP genotyping was performed in five FA-D2 patients and in one FA-A patient. The polymorphisms studied were synonymous (n=10), nonsynonymous (missense) (n=52) and in non-coding regions of the genome (introns and 5 and 3 untranslated regions (UTR)) (n=33). Polymorphisms found at the homozygous state are selected for further analysis. Our results have shown a significant inter-individual variability among patients in the type and the frequency of SNPs and also elucidate the need for further studies of polymorphisms located in ATM, APEX APE 1, XRCC1, ERCC2, MSH3, PARP4, NBS1, BARD1, CDKN1B, TP53 and TP53BP1 which may be of great importance for better clinical description of FA. In addition, the present report recommends the use of SNPs as predictive and prognostic genetic markers to individualize therapy of FA patients.", journal = "Genetika", title = "Assessment of Single Nucleotide Polymorphisms in Screening 52 DNA Repair and Cell Cycle Control Genes in Fanconi Anemia Patients", volume = "47", number = "2", pages = "695-710", doi = "10.2298/GENSR1502695P" }
Petrović, S., Leskovac, A., Joksić, I., Vujić, D., Valenta-Šobot, A., Filipović, J. G.,& Joksić, G.. (2015). Assessment of Single Nucleotide Polymorphisms in Screening 52 DNA Repair and Cell Cycle Control Genes in Fanconi Anemia Patients. in Genetika, 47(2), 695-710. https://doi.org/10.2298/GENSR1502695P
Petrović S, Leskovac A, Joksić I, Vujić D, Valenta-Šobot A, Filipović JG, Joksić G. Assessment of Single Nucleotide Polymorphisms in Screening 52 DNA Repair and Cell Cycle Control Genes in Fanconi Anemia Patients. in Genetika. 2015;47(2):695-710. doi:10.2298/GENSR1502695P .
Petrović, Sandra, Leskovac, Andreja, Joksić, Ivana, Vujić, Dragana, Valenta-Šobot, Ana, Filipović, Jelena G., Joksić, Gordana, "Assessment of Single Nucleotide Polymorphisms in Screening 52 DNA Repair and Cell Cycle Control Genes in Fanconi Anemia Patients" in Genetika, 47, no. 2 (2015):695-710, https://doi.org/10.2298/GENSR1502695P . .