Alena Telepova, a student at the NSU Institute of Medicine and Psychology, investigated a very rare genetic pathology: marker chromosomes in patients with intellectual disability. The results of this work can be useful for pregnant women who are interested in prenatal diagnosis of the embryo to identify genetic abnormalities and get a prognosis for the pathology that will develop.
Marker chromosomes are structurally abnormal chromosomes that can be either complementary to normal karyotypes (complete set of chromosomes: number, size, shape, etc., inherent in the cells of a biological species or organism), or substitute one of the sex chromosomes or autosomes (chromosomes that do not participate in determining the sex of a living organism).
According to the literature, the appearance of marker chromosomes in patients with intellectual disability is approximately 7 times higher than in healthy people. The existence of a marker chromosome is a rare phenomenon so it is of interest to science. Most carriers of these chromosomes die before birth.
Alena Telepova is a 6th-year medical student at the NSU Institute of Medicine and Psychology. She talked about this study of marker chromosomes that is her thesis work,
My research is devoted to the study of marker chromosomes: their origin, their molecular-genetic composition, and how this can affect the clinical picture as manifested in patients. The work is completely experimental. The Institute of Molecular and Cell Biology SB RAS has a group of patients with mental retardation and among these patients, those with marker chromosomes were identified. Trying to classify them, for example, by saying that this pathology is more common in men than in women, is impossible. The pathology itself is too rare, its occurrence in the population is about 1%.
In the future, knowledge of the origin and molecular-genetic composition of marker chromosomes can help improve prenatal diagnosis. Prenatal diagnosis is very popular. Many pregnant women voluntarily submit to this examination including, women over 35 years of age who are prescribed additional tests to identify genetic pathologies of the embryo. In addition, the study of marker chromosomes can help families in which there is already one child with an intellectual disability, or those who have been unable to conceive a child for a long time without knowing why.
Alena Telepova recently returned fr om Moscow, wh ere she took part in the International Scientific Conference for Students, Post-Graduate Students and Young Scientists "Lomonosov-2018". Her work was recognized there as the best in the "Genetics" category. This confirms the interest and value in Telepova’s research for the scientific community.