2014  0,718
2013  0,739
2012  0,637
2011  0,658
2010  0,654
2009  0,570
2008  0,849
2007  0,805
2006  0,330
2005  0,435
2004  0,623
2003  0,567
2002  0,641
2001  0,490
2000  0,477
1999  0,762
1998  0,785
1997  0,507
1996  0,518
1995  0,502
Vol 51(2017) N 4 p. 621-626; DOI 10.1134/S0026893317040069 Full Text

T.S. Bobokova1, N.A. Lemskaya1, I.S. Kolesnikova1, D.V. Yudkin1,2*

Method for the Molecular Cytogenetic Visualization of Fragile Site FRAXA

1Institute of Molecular and Cellular Biology, Siberian Branch, Russian Academy of Sciences, Novosibirsk, 630090 Russia
2Novosibirsk State University, Novosibirsk, 630090 Russia

Received - 2016-08-02; Accepted - 2016-11-07

Fragile X syndrome is one of the most common reasons for human hereditary mental retardation. It is associated with the expansion of CGG repeats in the 5'-untranslated region of the FMR1 gene, which results in the suppression of its expression and the development of the disease. At present, methods based on PCR and Southern blot analysis are used for diagnostics of the fragile X syndrome. The presence of a fragile site FRAXA on the X chromosome is typical for patients with this pathology. We developed a method of visualizing this site in cell cultures obtained from patients using the fluorescent in situ hybridization (FISH) and the combination of two probes. The method allows one to detect five types of signals on the X chromosome, three of which are normal, while two are associated with the emergence of fragile site FRAXA. An analysis of the distribution of all signal types in cell lines from healthy individuals and patients with fragile X syndrome demonstrated that the method allows one to determine differences between lines with a high statistical significance and that it is applicable to detecting cells that are carriers of the syndrome.

fragile X syndrome, mental retardation, chromosome fragility, FRAXA, FMR1, fluorescent in situ hybridization