An increase in inbreeding level and advanced parental age are factors that increase the risk of having children with structural and numerical chromosomal abnormalities due to altered frequency of recombination and impaired behavior of chromosomes in meiosis. There is limited information on the effects of inbreeding on human chromosomal and genomic mutations. The purpose of the study was to assess the effect of inbreeding on the prevalence of chromosomal abnormalities in the districts of the Kharkiv region. Materials and methods. The study was conducted in four districts of the Kharkiv region – Balakliia, Vovchansk, Zmiiv, and Krasnograd (administrative and territorial structure is given as of July 1, 2020). Based on the data of analysis of 1,582 marriages between opposite-sex couples mean age at marriage, marital distance, and the random inbreeding coefficient (FST) were estimated. Of 654 children (aged 0–17 years) included in the study, 39 had chromosomal disorders that was the basis for the calculation of the prevalence of chromosomal abnormalities. Results and discussion. In four districts, the mean age at marriage for local residents was 27.8 ± 0.1 years. Men were 2.9 years older than women at marriage. The marital distance was 320.4 ± 28.4 km, varying from 263.17 ± 48.39 km in the Balakliia district to 400.12 ± 79.97 km in the Vovchansk district. The random inbreeding coefficient FST was 0.001292. In rural settlements, the random inbreeding coefficient FST was by 17.2 times higher than in urban settlements. The index rose by 80 percent over the last seven years. The prevalence of chromosomal pathology among children and adolescents was 0.08%, ranging from 0.05% in the Vovchansk district to 0.14% in the Krasnograd district. Among the cases included, there were patients with Down syndrome, Klinefelter syndrome, Turner syndrome, and Prader-Willi syndrome. The most common nosological entity was Down syndrome. The prevalence of chromosomal abnormalities in villages was by 2.6 times higher than in towns. A strong positive relationship was established between the random inbreeding coefficients FST and the prevalence of chromosomal disorders in the study area (r = 0.904). Conclusion. Almost two-fold increase in the inbreeding rate in the mentioned districts in just past seven years may contribute to accumulation of burden of chromosomal disorders of the population due to the presence of a positive correlation between the study population indicators
Aim. Study of genetic pathology burden, both monogenic and chromosomal, of pediatric population of Krasnohrad district of Kharkiv region. Methods. Epidemiological and clinical-genealogical methods have been used. The information on 252 patients aged 0– 17 years from all major sources of their registration has been analyzed. Results. The monogenic pathology burden of pediatric population was 0.28 %, chromosomal disorders burden — 0.13 %, 0.41 % in total. There were 14 nosological forms of single-gene diseases, the most common ones were sensorineural hearing loss (1:1295), congenital glaucoma (1:3884), congenital hypothyroidism (1:3884), ichthyosis (1:3884). For the past ten years there was a change in the spectrum of single-gene pathology in pediatric population of Krasnohrad district. Chromosomal abnormalities in the area were represented by Down syndrome (1:868) and Prader-Willi syndrome (1:7767). Conclusions. The genetic pathology burden of the pediatric population of the Krasnohrad district of Kharkiv region, the spectrum of monogenic and chromosomal pathology, and prevalence of their individual nosological forms are comparable to those in most European countries. Keywords: genetic pathology, prevalence, single-gene diseases, chromosomal disorders, Kharkiv region.
The availability analysis of genetic databases in the articles of Ukrainian and foreign scientists was performed. Only 6.4 % of articles in domestic journals provided data on the subjects’ genotype and haplotype distribution. Most journals are open access, but their editorial policy does not postulate their commitment to open data sharing.
Ichthyosis is genetically and clinically heterogenic group of epidermis keratinization disorders. Its prevalence is geographically different. Aim. The aim of this research was to evaluate ichthyosis prevalence in Kharkiv region. Methods. The collection of clinical-genealogical history was carried out by the method of single registration of the proband on the basis of the Regional Clinical Dermatological and Venereological Health Center No. 1 and the Dermatovenerological Health Centers of the Kharkiv Region in 2017. Results. The ichthyosis prevalence in Kharkiv region was 2.5·10–4 in 2017. The ichthyosis prevalence varied from 6.7∙10‑5 in Krasnohrad district to 1.0∙10‑3 in Dvorichna district. The least prevalence was in the population of Vovchansk city (1.1∙10‑4) and the highest one was in the population of Dvorichna city (10.7∙10‑4). The differences between the prevalence of ichthyosis vulgaris in Kharkiv region in 2008-2017 were established. Conclusions. It was found that the decrease of ichthyosis prevalence in Kharkiv region was 1.6 times during last 10 years. This index for ichthyosis vulgaris was decreased 1.9 times at the same period. Monogenic dermatoses, as an example of ichthyosis, can be used both to monitor the burden of genetic disorders in the region and to solve the problems of general and personal genetic safety in the population. Keywords: ichthyosis vulgaris, X-linked recessive ichthyosis, prevalence.
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