Medical genetics studies at the SBB-2019 and MGNGS-2019 conferences

There is growing evidence that different forms of anemia (changes in the number and quality of blood cells) may be involved in (or may accompany) the pathogenesis of various cognitive and mental disorders, such as Alzheimer’s and Parkinson’s diseases, depression of various severity levels, bipolar disorders, and schizophrenia. In the study, a search for unannotated single-nucleotide polymorphisms of erythroid genes was performed using the authors software tool SNP-TATA_Z-tester, the Web service for in silico estimation of the affinity of TATA-binding protein (TBP) to a given SNP sequence [20, 21]. Applications of SNP marker analysis using TBP binding estimates in the gene promoters provide fundamental background for biomedical studies [22, 23]. The authors further contribute to this field by evaluation the molecular mechanism of splicing alteration in homozygous state reporting a clinical case of an affected patient.