Published in Russian Journal of Genetics
AbstractHuman induced pluripotent stem cells (iPSCs) are a promising source of cells for regenerative medicine, study of the pathogenesis of various diseases, screening of pharmacological drugs, and other clinical and basic research. However, the maintenance of the genetic stability of the cells during reprogramming, long-term culture, and directed...
Published in Russian Journal of Genetics
AbstractHuman adaptation to extreme climatic and geographic conditions mediated by natural selection may be one of the major factors for formation of genetic structure in North Eurasian populations. Using data on a genome-wide set of single nucleotide polymorphisms (SNPs), we searched for the signals of positive selection in five populations of Sib...
Published in Russian Journal of Genetics
AbstractBackground: Matrix metalloproteinases (MMPs) play important role in Multiple Sclerosis (MS), an autoimmune and neuro-inflammatory disease. It has been demonstrated that two important polymorphisms, the –1562 C/T and microsatellite (CA)n near the –90 position in the promoter region of MMP-9 gene are associated with increased MMP-9 expression...
Published in Russian Journal of Genetics
AbstractThe fluorescence in situ hybridization (FISH) technique allows for the estimation of the number of stable chromosomal aberrations (translocations) in human blood T-lymphocytes decades after radiation exposure. Therefore, it is used for retrospective assessment of irradiation doses received by red bone marrow (RBM). Cytogenetic analysis of i...
Published in Russian Journal of Genetics
AbstractUsing chromosome microarray analysis, 52 samples of placental tissues from first trimester human spontaneous abortions were examined. One hundred twenty copy number variations (CNVs) were identified, affecting one or more genes (total of 427 genes). Using enrichment analysis with the mammalian phenotype ontology, all genes were divided into...
Published in Russian Journal of Genetics
AbstractObesity is one of the global health problems resulting in significant economic and social damage in both developed and developing countries. Overweight and obesity are key risk factors of diabetes and cardiovascular and oncological diseases that cause high morbidity and mortality. In the present paper, the method of multiplex genotyping of ...
Published in Russian Journal of Genetics
AbstractThe diagnosis and treatment of patients with hereditary diseases require the creation of efficient methods for the study of individual genomes. The existing approaches either are aimed at searching for a narrow set of genomic variants or are too expensive to use in routine practice. We studied the possibility of detection point mutations an...
Published in Russian Journal of Genetics
AbstractMost common reasons for pregnancy loss are chromosomal anomalies of the fetus. They are found in as much as half of the miscarriages. The standard technique for assessment of chromosomal abnormalities in spontaneously aborted fetuses has been karyotyping, however, it needs cell culture which is the most vulnerable element of a diagnostic pr...
Published in Russian Journal of Genetics
The results of the study of chromosomal aberrations and micronuclei in blood lymphocytes, as well as micronuclei in buccal epithelium cells of 50 untreated men with lung cancer (LC) and 62 control donors, are presented. Using a variety of cytogenetic tests, a significant unidirectional increase in the base level of genetic instability in the cells ...
Published in Russian Journal of Genetics
AbstractExperimental embryology achievements in the century resulted in the birth of the first child conceived artificially. Besides its obvious social significance, the successful solution of the “test-tube babies” provided also the unique chance for direct inspection of human embryos growing in vitro at their earlier stages. New technologies appl...
