Meiotic segregation and interchromosomal effect of heterochromatin small supernumerary marker chromosomes
https://doi.org/10.25557/2073-7998.2022.12.64-70
Abstract
Introduction. Small supernumerary marker chromosomes (sSMCs) consisting of heterochromatin regions can be found in individuals without visible phenotypic abnormalities. Their presence in the karyotype sometimes leads to reproductive problems associated with the risk of meiosis errors due to interchromosomal synapses and the process of non-disjunction of homologous chromosomes. Aim: to investigate meiotic segregation and evaluate the frequency of gamete formation with aneuploidy in males with karyotype 47,XY,+mar without clinically significant phenotypic abnormalities. Materials and Methods: fluorescence in situ hybridization (FISH) on fixed sperm preparations in 7 male patients-asymptomatic carriers of sSMC. Results. In all sSMC carriers, the frequency of spermatozoa containing the marker chromosome did not exceed 30% and averaged 15.04±9.4 (±SD). The proportion of aneuploid spermatozoa did not exceed 3.1% and, on average, was 1.9%±1.1, which does not differ from the frequency of aneuploidy in gametes in individuals with normal karyotype (does not exceed 5.9% and, on average, is 2.2±1.8). Conclusions. In carriers of heterochromatinous sSMC gametes in meiosis are predominantly formed without a marker chromosome. It has been shown that the presence of a high proportion of sSMC in the ejaculate cells does not significantly affect the meiotic segregation of other chromosomes, i.e., there is no interchromosomal effect.
About the Authors
A. A. Tarlycheva
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Zh. G. Markova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
M. E. Minjenkova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
N. V. Shilova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
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For citations:
Tarlycheva A.A., Markova Zh.G., Minjenkova M.E., Shilova N.V. Meiotic segregation and interchromosomal effect of heterochromatin small supernumerary marker chromosomes. Medical Genetics. 2022;21(12):64-70. (In Russ.) https://doi.org/10.25557/2073-7998.2022.12.64-70
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