2024 / 01

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DOI: 10.24075/brsmu.2024.001

ORIGINAL RESEARCH

Molecular cytogenetic characteristics of small supernumerary marker chromosomes 15 and 22 in asymptomatic carriers

Yurchenko DA, Markova ZhG, Minzhenkova ME, Vorontsova EO, Shilova NV
About authors

Research Centre for Medical Genetics, Moscow, Russia

Correspondence should be addressed: Darya A. Yurchenko
Moskvorechye, 1, Moscow, 115522, Russia; ur.liam@vblahsad

About paper

Funding: this work was carried out at the expense of budgetary funds within the framework of research topic № 122032300370-1, “Study of Structural and Functional Features and Mechanisms of the Formation of Chromosomal Abnormalities and Genomic Imbalance.”

Author contribution: Yurchenko DA — study design, development of homemade DNA probes, FISH diagnosis and data interpretation, manuscript writing; Markova ZhG and Minzhenkova ME — FISH analysis with commercial DNA probes; Vorontsova EO — implementation of the protocol of FISH with homemade DNA probes; Shilova NV — study concept and design, discussion, scientific editing of manuscript.

Compliance with ethical standards: the study was approved by the Ethics Committee of the Research Centre for Medical Genetics (protocol No. 4/2 dated 19 April 2021). The patients submitted the informed consent to participation in scientific research.

Received: 2023-10-23 Accepted: 2024-01-06 Published online: 2024-01-31
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Fig. 1. Results of FISH with commercial DNA probes for chromosome 15. А. The marker chromosome originating from chromosome 15 in the form of inverted duplication (ish dic (15;15)(D15Z1+,D15Z1+)). Centromere of chromosome 15 (D15Z1) — red hybridization signal, pericentromeric region of chromosome 22 (CCP22-Pericentromeric) — green hybridization signal (control). B. The marker chromosome originating from chromosome 15 comprises no 15q11.2-q13 euchromatic region. Centromere of chromosome 15 (D15Z1) — green hybridization signal, LSI SNRPN — red hybridization signal
Fig. 2. А. Size and localization of homemade DNA probes within the pericentromeric euchromatic region of chromosome 15. B. Size and localization of homemade DNA probes within the pericentromeric euchromatic region of chromosome 22
Fig. 3. Results of hybridization involving the homemade DNA probe for the chromosome 15 pericentromeric euchromatin — hm-15-prox
Fig. 4. Results of hybridization involving the homemade DNA probe for the chromosome 22 pericentromeric euchromatin. А. Proximal DNA probe. B. Median DNA probe. C. Distal DNA probe
Table 1. Nucleotide sequences of primers used in the study
Table 2. Molecular cytogenetic characteristics of sSMC
Note: hm (homemade) — homemade DNA probe.