Object of the study: patients with clinically revealed mitochondrial pathology (MP), population sample. Purpose of the study: to determine haplotypes of the population of Ukraine for assessing the variety and degree of kinship of populations and the effect of the genetic background on the manifestation of mitochondrial diseases. Methods of the study: molecular-genetic (polymerase chain reaction, sequencing, polymorphism of lengths of restrictive fragments) ones; phylogeographical and phylogenetic analyses; statistical analysis. Practical significance: screening of polymorphous variants of the mitochondrial DNA (mtDNA) on U5, T and X haplogroups was included into the algorithm of examination of patients with MP as an important diagnostic element. A database was created, which contains complete clinical and molecular-genetic information on patients with MP. The molecular-genetic characteristic of the population of Ukraine by the data of polymorphism of hy-pervariable segment I (HVS I) of the control region and the encoding area of mtDNA is a notable contribution to the knowledge about the ethogenesis of the eastern Slav populations and peculiarities in the genetic funds of the population of Europa and Asia and, therefore, can be used in anthropological, archeological and ethnographic studies on this problem. Results of the analysis of mtDNA polymorphism in the sample of Ukrainians can serve as a basis for creating a reference database when conducting criminal law investigations on the basis of mtDNA typing on the territory of Ukraine. Results of the research were introduced into the practical work of the Kharkiv Specialized Medical-Genetic Centre (KSMGC) and the Department of Neurogenetics of the Institute of Neurology, Psychiatry and Narcology of the Academy of Medical Sciences of Ukraine, as it is confirmed by corresponding acts. The results are included into methodological recommendations, manuals, textbook “Medical Genetics”, which are used in the educational process for delivering lectures and conducting practical classes with students of Kharkiv State Medical University, doctors of Kharkiv Medical Academy of Postgraduate Education, in instructive programmes for the population. Novelty of the obtained results: for the first time, the structure of the mitochondrial genetic fund of the population of Ukraine was characterized by the data of polymorphism of nucleotide sequences of HVS I of the control region and the encoding area of mtDNA. Indices of the genetic variety of mtDNA were calculated; haplogroup frequency rates and phylogenetic relations of mtDNA haplotypes in the population sample and the sample of patients with MP were established. A detailed characteristic of mi-tochondrial markers in the modern Ukrainian population with a re-construction of the evolutional processes in the context of Slav peoples and European populations was obtained. The influence of population polymorphisms was assessed. In the patients’ sample, additional polymorphisms (genetic background) were revealed in U5, T and X haplogroups, which together with their main causes may play a certain part in the manifestation of mitochondrial dis-eases. The results are the first systematized data on the ethnogene-sis of the population of Ukraine, obtained on the basis of studying the polymorphism of HVS I of the control region and the encoding area of mtDNA; they prove existence of genetic peculiarities of mtDNA in modern Ukrainian populations and substantiate the ne-cessity of their consideration for effective prognosticating, diag-nosing and preventing monogenetic and multifactor pathology, as-sociated with functional insufficiency of mitochondria. Introduction: Results of the research were introduced into the practical work of KSMGC and the Department of Neurogenetics of the Institute of Neurology, Psychiatry and Narcology of the Acad-emy of Medical Sciences of Ukraine, as it is confirmed by corre-sponding acts. The results are included into methodological rec-ommendations, manuals, textbook “Medical Genetics”, which are used in the educational process for delivering lectures and conduct-ing practical classes with students of Kharkiv State Medical Uni-versity, doctors of Kharkiv Medical Academy of Postgraduate Education, in instructive programmes for the population. Sphere of application: medicine, genetics.
