The burden of genetic disorders in different countries and ethnic groups demonstrates a wide interpopulation variety. Therefore, the study of the population genetic characteristics in different regions is an important stage in human genetics research, which allows assessing the factors of population dynamics, such as markers for mutation and migration processes, the marriages structure. The purpose of the study was the assessment the burden of genetic diseases in the pediatric population of Zmiiv district, Kharkiv region, Ukraine. Materials and methods. Total number of children aged 0–17 in Zmiiv district of Kharkiv region was 11957, including 5763 girls and 6194 boys in 2015. The medical information about 204 patients of target groups was analysed in medical institutions of Zmiiv district and Kharkiv region. The genetic disorders prevalence was calculated as the ratio of the number of patients with certain hereditary disease to the total number of population studied. The prevalence of X-linked diseases was calculated per male individuals. Results and discussion. The only single-gene and chromosome disorders were analysed during the medical genetic survey. The burden of genetic disorders in population studied was 0.37%. The spectrum and prevalence of single-gene diseases were determined. The prevalence of single-gene disorders in the district was 0.30%. There were 17 nosological forms of monogenic disorders with different types of inheritance in pediatric population of Zmiiv district. The most frequent genetic diseases were sensorineural hearing loss (1:797), hypopituitarism (1:2989), periodic paralysis (1:5979), and haemophilia A (1:6194). The prevalence of chromosome disorders in the district was 0.07%. Chromosomal abnormalities were represented with Down syndrome (1:1495). Conclusions. The conducted research has shown that the characteristics of monogenic pathology in Zmiiv district of the Kharkiv region are comparable to those in most of the Eastern European populations both in their spectrum and prevalence.
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