Multiplex ligation-dependent probe amplification in diagnosis of Marfan syndrome
https://doi.org/10.25557/2073-7998.2018.04.37-41
Abstract
The results of multiplex ligation-dependent probe amplification in molecular-genetic diagnosis of Marfan syndrome are reported.
About the Authors
A. A. Gusina
Belorussian State Scientific Practical Center «Mother and child»
Russian Federation
Russian Federation
S. O. Miasnikov
Belorussian State Scientific Practical Center «Mother and child»
Russian Federation
Russian Federation
N. B. Gusina
Belorussian State Scientific Practical Center «Mother and child»
Russian Federation
Russian Federation
References
1. 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.
2. 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.
3. 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.2009.072785
4. 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.
5. 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.
6. 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.
7. 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.
8. The UMD-FBN1 mutations database. [доступ от 24.07.2017]; Available from http://www.umd.be/FBN1/.
9. 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.
10. Franken R. Heesterbeek ThJ, de Waard V. et al. Diagnosis and genetics of Marfan syndrome. Expert Opin.Orphan Drugs. 2014; 2(10): 1049-1062.
11. 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.
12. 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.
13. Lally D., Monsonego J. Ectopia Lentis in Marfan’s Syndrome. NEJM. 2014; doi: 10.1056/NEJMicm1314140.
Review
For citations:
Gusina A.A., Miasnikov S.O., Gusina N.B. Multiplex ligation-dependent probe amplification in diagnosis of Marfan syndrome. Medical Genetics. 2018;17(4):37-41. (In Russ.) https://doi.org/10.25557/2073-7998.2018.04.37-41
Views:
1098
Email this article 