Biopolym. Cell. 2016; 32(1):49-53.
http://dx.doi.org/10.7124/bc.00090C
Molecular Biomedicine
Efficiency of application of different DNA probes in identifying marker chromosomes
1Tavokina L. V., 1Brovko A. O., 1Baronova E. V., 1Moskalenko E. P., 2Gorovenko N. G.
  1. "ISIDA" clinic
    65, Ivana Lepse Boulevard, Kyiv, Ukraine, 03126
  2. P. L. Shupik National medical academy of post-graduate education
    9, Dorohozhytska Str., Kyiv, Ukraine, 04112

Abstract

The presence of marker chromosomes in the human karyotype always requires a special diagnostic approach. Determination of the marker chromosome type and structure is of great diagnostic and prognostic importance. There are several methods of marker chromosomes identification, which differ in their informative value. The paper presents the results of cytogenetic and FISH diagnostics of supernumerical marker chromosomes (SMC) cases in patients’ karyotype. Aim. To analyze the results of the cytogenetic and molecular cytogenetic diagnostics for patients with marker chromosomes, and to evaluate and compare the efficiency of the methods used. Methods. Karyotyping was done according to the standard methods. GTG, CBG, QFQ and NOR-Ag methods of differential staining were used. FISH was performed according to the manufacturer’s instructions for CEP, LSI and WCP DNA-probes. Results. Marker chromosome was found in 15 of 7989 patients. Application of standard staining methods was effective in 66.6 % of cases. Combination of differential staining and FISH allowed identifying a marker chromosome in 83.3 %. 90 % of all marker chromosomes were identified as isochromosomes and 60 % of them were derivative from chromosome 15. Conclusions. The use of WCP probes is a main step in the marker chromosome identification with further application of CEP/LSI probes. If a marker chromosome has nonspecific DNA sequences more sensitive methods should be use..
Keywords: molecular cytogenetic diagnostics, marker chromosome, DNA probes
Full text: (PDF, in English)

References

[1] Rubtsov NB, Karamysheva TV, Gayner TA. Supernumerical marker chromosomes. Med Genet. 2003; 2(6):248-58.
[2] Van Der Smagt JJ, Giltay JC, De Ne JJ, Slabbers GH. Large inv dup(15) chromosome in two generations. J Med Genet. 1996;33(3):261-2.
[3] Baranov V, Kuznetsova T. Cytogenetics of human embryonic development: theoretical and practical aspects. Saint Patersburg: N-L, 2007. 490-1 p.
[4] Kuznetsova T, Kuznetsov T, Loginova Y, Chiryaeva O, Pendina A, Baranov V. Medical Laboratory Technology: A handbook. Medical laboratory technology. Saint Patersburg: Intermedika, 1998; 550-71 p.
[5] ISCN 2013 an international system for human cytogenetic nomenclature (2013). Eds. Shaffer LG, McGowan-Jordan J, Schmid M. Basel: Karger, 2013; 140 p.
[6] Dennis N, Hulten M. Idicl5. Rare Chromosome Disorder Support Group. Oxted, Unique, 2004.
[7] Ewers E, Yoda K, Hamid AB, Weise A, Manvelyan M, Liehr T. Centromere activity in dicentric small supernumerary marker chromosomes. Chromosome Res. 2010;18(5):555-62.
[8] Tavokina LV, Brovko AA, Afanasyeva NA, Baronova EV, Moskalenko EP. [Molecular cytogenetic diagnosis of cases with supernumerary marker chromosomes derived from chromosome 15]. Arch Clin Exp Med. 2012; 21(2):190-2.
[9] Liehr T, Ewers E, Hamid AB, Kosyakova N, Voigt M, Weise A, Manvelyan M. Small supernumerary marker chromosomes and uniparental disomy have a story to tell. J Histochem Cytochem. 2011;59(9):842-8.