medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2018.04.37-41medgen-431Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHМетод мультиплексной амплификации лигированных зондов в диагностике синдрома МарфанаMultiplex ligation-dependent probe amplification in diagnosis of Marfan syndromeГусинаА. А.GusinaA. A.asya.gusina@mail.ruМясниковС. О.MiasnikovS. O.noemail@neicon.ruГусинаН. Б.GusinaN. B.noemail@neicon.ruГУ Республиканский научно-практический центр «Мать и дитя»РоссияBelorussian State Scientific Practical Center «Mother and child»Russian Federation2018060620181743741Copyright © Гусина А.А., Мясников С.О., Гусина Н.Б., 20182018Гусина А.А., Мясников С.О., Гусина Н.Б.Gusina A.A., Miasnikov S.O., Gusina N.B.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/431

Приведены результаты использования метода мультиплексной амплификации лигированных зондов в молекулярно-генетической диагностике синдрома Марфана.

The results of multiplex ligation-dependent probe amplification in molecular-genetic diagnosis of Marfan syndrome are reported.

синдром Марфанамультиплексная амплификация лигированных зондовMarfan syndromemultiplex ligation-dependent probe amplificationReferencesLoeys BL, Matthys DM, de Paepe AM. Genetic fibrillinopathies: new insights in molecular diagnosis and clinical management. Acta Clin Belg. 2003; 58 (1): 3-11.Loeys BL, Matthys DM, de Paepe AM. Genetic fibrillinopathies: new insights in molecular diagnosis and clinical management. Acta Clin Belg. 2003; 58 (1): 3-11.Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature.1991; 352: 337-339.Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature.1991; 352: 337-339.Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010; 47:476-485, doi:10.1136/jmg.2009.072785Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010; 47:476-485, doi:10.1136/jmg.2009.072785Salah MA, Martinez I. Universal and rapid salt-extraction of high quality genomic DNA for PCR-based techniques. Nucleic Acids Res.1997; 25 (22): 4692-4693.Salah MA, Martinez I. Universal and rapid salt-extraction of high quality genomic DNA for PCR-based techniques. Nucleic Acids Res.1997; 25 (22): 4692-4693.Singh KK, Elligsen D, Liersch R, et al. Multi-exon out of frame deletion of the FBN1 gene leading to a severe juvenile onset cardiovascular phenotype in Marfan syndrome. J Mol Cell Cardiol. 2007; 42 (2): 352-356.Singh KK, Elligsen D, Liersch R, et al. Multi-exon out of frame deletion of the FBN1 gene leading to a severe juvenile onset cardiovascular phenotype in Marfan syndrome. J Mol Cell Cardiol. 2007; 42 (2): 352-356.Schouten JP, McElgunn CJ, Waaijer R, et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 2002; 30 (12): e57, doi: https://doi.org/10.1093/nar/gnf056.Schouten JP, McElgunn CJ, Waaijer R, et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 2002; 30 (12): e57, doi: https://doi.org/10.1093/nar/gnf056.Matyas G, Alonso S, Patrignani A, et al. Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. Hum Genet. 2007; (1): 23-32.Matyas G, Alonso S, Patrignani A, et al. Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. Hum Genet. 2007; (1): 23-32.The UMD-FBN1 mutations database. [доступ от 24.07.2017]; Available from http://www.umd.be/FBN1/.The UMD-FBN1 mutations database. [доступ от 24.07.2017]; Available from http://www.umd.be/FBN1/.Collod-Beroud S, Le Bourdelles L,. Ades L, et al. Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat. 2003; 22: 199-208.Collod-Beroud S, Le Bourdelles L,. Ades L, et al. Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat. 2003; 22: 199-208.Franken R. Heesterbeek ThJ, de Waard V. et al. Diagnosis and genetics of Marfan syndrome. Expert Opin.Orphan Drugs. 2014; 2(10): 1049-1062.Franken R. Heesterbeek ThJ, de Waard V. et al. Diagnosis and genetics of Marfan syndrome. Expert Opin.Orphan Drugs. 2014; 2(10): 1049-1062.Ogawa N, Imai Y, Takahashi Y, et al. Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene. Am J Cardiol. 2011; 108: 1801-1807.Ogawa N, Imai Y, Takahashi Y, et al. Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene. Am J Cardiol. 2011; 108: 1801-1807.Li J., Wu W., Chaoxia Lu Ch., et al. Gross deletions in FBN1 results in variable phenotypes of Marfan syndrome. Clinica Chimica Acta. 2017; doi: 10.1016/j.cca.2017.08.023.Li J., Wu W., Chaoxia Lu Ch., et al. Gross deletions in FBN1 results in variable phenotypes of Marfan syndrome. Clinica Chimica Acta. 2017; doi: 10.1016/j.cca.2017.08.023.Lally D., Monsonego J. Ectopia Lentis in Marfan’s Syndrome. NEJM. 2014; doi: 10.1056/NEJMicm1314140.Lally D., Monsonego J. Ectopia Lentis in Marfan’s Syndrome. NEJM. 2014; doi: 10.1056/NEJMicm1314140.

The authors declare that there are no conflicts of interest present.