actbiotechАктуальная биотехнологияTopical biotechnology2304-4691ВГУИТ10.20914/2304-4691-2019-3-568-570actbiotech-4360Research ArticleСтатьиАНАЛИЗ МУТАЦИОННОЙ НАГРУЗКИ ПРИ КАРОТИДНЫХ ПАРАГАНГЛИОМАХСнежкинаА. В.noemail@neicon.ruЛукьяноваЕ. Н.noemail@neicon.ruФедороваМ. С.noemail@neicon.ruСадритдиноваА. Ф.noemail@neicon.ruПудоваЕ. А.noemail@neicon.ruКалининД. В.noemail@neicon.ruГоловюкА. Л.noemail@neicon.ruПавловВ. С.noemail@neicon.ruКрасновГ. С.noemail@neicon.ruКудрявцеваА. В.noemail@neicon.ruИнститут молекулярной биологии им. В.А. ЭнгельгардтаРАНRussian Federation20191809201903568570Copyright © Снежкина А.В., Лукьянова Е.Н., Федорова М.С., Садритдинова А.Ф., Пудова Е.А., Калинин Д.В., Головюк А.Л., Павлов В.С., Краснов Г.С., Кудрявцева А.В., 20192019Снежкина А.В., Лукьянова Е.Н., Федорова М.С., Садритдинова А.Ф., Пудова Е.А., Калинин Д.В., Головюк А.Л., Павлов В.С., Краснов Г.С., Кудрявцева А.В.Снежкина А.В., Лукьянова Е.Н., Федорова М.С., Садритдинова А.Ф., Пудова Е.А., Калинин Д.В., Головюк А.Л., Павлов В.С., Краснов Г.С., Кудрявцева А.В.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.actbio-vsuet.ru/jour/article/view/4360ReferencesEl-Naggar A.K., Chan J.K.C., Grandis J.R., Takata T., Slootweg P.J. (2017) Classification of Head and Neck Tumours. Fourth edition. World Health Organization. 9, 348.El-Naggar A.K., Chan J.K.C., Grandis J.R., Takata T., Slootweg P.J. (2017) Classification of Head and Neck Tumours. Fourth edition. World Health Organization. 9, 348.Tan K.L., Mah P.K., Rajasoorya C., Sim C.S., Chia F.K. (1996) Paraganglioma with pulmonary metastases: a case report. ANNALS Academy of Medicine Singapore. 25(4), 592-595.Tan K.L., Mah P.K., Rajasoorya C., Sim C.S., Chia F.K. (1996) Paraganglioma with pulmonary metastases: a case report. ANNALS Academy of Medicine Singapore. 25(4), 592-595.Kumari K., Jain D., Kumar R., Mohan A., Kumar R. (2017) Metastatic carotid body paraganglioma of lungs and lymph nodes: Unsuspected diagnosis on EBUS-TBNA. Diagnostic Cytopathology. 45(4), 327-332.Kumari K., Jain D., Kumar R., Mohan A., Kumar R. (2017) Metastatic carotid body paraganglioma of lungs and lymph nodes: Unsuspected diagnosis on EBUS-TBNA. Diagnostic Cytopathology. 45(4), 327-332.Bayley J.P., Kunst H.P., Cascon A., Sampietro M.L., Gaal J., Korpershoek E., Hinojar-Gutierrez A., Timmers H.J., Hoefsloot L.H., Hermsen M.A., Suarez C., Hussain A.K., Vriends A.H., Hes F.J., Jansen J.C., Tops C.M., Corssmit E.P., de Knijff P., Lenders J.W., Cremers C.W., Devilee P., Dinjens W.N., de Krijger R.R., Robledo M. (2010) SDНАF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. Lancet Oncology. 11, 366-372.Bayley J.P., Kunst H.P., Cascon A., Sampietro M.L., Gaal J., Korpershoek E., Hinojar-Gutierrez A., Timmers H.J., Hoefsloot L.H., Hermsen M.A., Suarez C., Hussain A.K., Vriends A.H., Hes F.J., Jansen J.C., Tops C.M., Corssmit E.P., de Knijff P., Lenders J.W., Cremers C.W., Devilee P., Dinjens W.N., de Krijger R.R., Robledo M. (2010) SDНАF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. Lancet Oncology. 11, 366-372.Hensen E.F., Bayley J.P. (2011) Recent advances in the genetics of SDH-related paraganglioma and pheochromocytoma. Familial Cancer. 10, 355-363.Hensen E.F., Bayley J.P. (2011) Recent advances in the genetics of SDH-related paraganglioma and pheochromocytoma. Familial Cancer. 10, 355-363.Hensen E.F., Siemers M.D., Jansen J.C., Corssmit E.P., Romijn J.A., Tops C.M., van der Mey A.G., Devilee P., Cornelisse C.J., Bayley J.P., Vriends A.H. (2011) Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients. Clinical Endocrinology. 75, 650-655.Hensen E.F., Siemers M.D., Jansen J.C., Corssmit E.P., Romijn J.A., Tops C.M., van der Mey A.G., Devilee P., Cornelisse C.J., Bayley J.P., Vriends A.H. (2011) Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients. Clinical Endocrinology. 75, 650-655.Zhikrivetskaya S.O., Snezhkina A.V., Zaretsky A.R., Alekseev B.Y., Pokrovsky A.V., Golovyuk A.L., Melnikova N.V., Stepanov O.A., Kalinin D.V., Moskalev A.A., Krasnov G.S., Dmitriev A.A., Kudryavtseva A.V. (2017) Molecular markers of paragangliomas/pheochromocytomas. Oncotarget. 8, 25756-25782.Zhikrivetskaya S.O., Snezhkina A.V., Zaretsky A.R., Alekseev B.Y., Pokrovsky A.V., Golovyuk A.L., Melnikova N.V., Stepanov O.A., Kalinin D.V., Moskalev A.A., Krasnov G.S., Dmitriev A.A., Kudryavtseva A.V. (2017) Molecular markers of paragangliomas/pheochromocytomas. Oncotarget. 8, 25756-25782.Bolger A.M., Lohse M., Usadel B. (2014) Trimmomatic: a flexible trimmer for Illumina sequence data. Bioinformatics. 30, 2114-2120.Bolger A.M., Lohse M., Usadel B. (2014) Trimmomatic: a flexible trimmer for Illumina sequence data. Bioinformatics. 30, 2114-2120.Li H., Durbin R. (2010) Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics. 26, 589-595.Li H., Durbin R. (2010) Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics. 26, 589-595.Li H., Handsaker B., Wysoker A., Fennell T., Ruan J., Homer N., Marth G., Abecasis G., Durbin R., Genome Project Data Processing S. (2009) The Sequence Alignment/Map format and SАМtооls. Bioinformatics. 25, 2078-2079.Li H., Handsaker B., Wysoker A., Fennell T., Ruan J., Homer N., Marth G., Abecasis G., Durbin R., Genome Project Data Processing S. (2009) The Sequence Alignment/Map format and SАМtооls. Bioinformatics. 25, 2078-2079.Li H. (2011) A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data. Bioinformatics. 27, 2987-2993.Li H. (2011) A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data. Bioinformatics. 27, 2987-2993.Garrison E., Marth G. (2012) Haplotype-based variant detection from short-read sequencing. аrХiv. 1207.3907 [q-bio. GN].Garrison E., Marth G. (2012) Haplotype-based variant detection from short-read sequencing. аrХiv. 1207.3907 [q-bio. GN].Cingolani P., Platts A., Wang le L., Coon M., Nguyen T., Wang L., Land S.J., Lu X., Ruden D.M. (2012) A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNРs in the genome of Drosophila melanogaster strain w1118; iso 2; iso 3. Fly (Austin). 6, 80-92.Cingolani P., Platts A., Wang le L., Coon M., Nguyen T., Wang L., Land S.J., Lu X., Ruden D.M. (2012) A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNРs in the genome of Drosophila melanogaster strain w1118; iso 2; iso 3. Fly (Austin). 6, 80-92.
The authors declare that there are no conflicts of interest present.