Груз и разнообразие наследственных заболеваний скелета у детского населения 12 районов в Ростовской области

The study presents the results of a complex medical and population genetic study of hereditary skeletal disorders (HSD) in the child population of 12 districts of the Rostov Region (RR). The aim of the study was to perform genetic and epidemiological analysis of genetic load and diversity of HSD in the child population of RR; as well as to evaluate the role of the genetic structure of RR in the differentiation of the HSD load values in the child population in 12 districts of the RR. Materials and methods: The total size of the investigated population of 12 districts of RR is 101845 children (46356 urban and 55489 rural). A load of autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) HSD is calculated. Results: the total genetic load of HSD among child population of the RR was 2.47 ± 0.16/1,000 (1:404 children). The differentiation in the values of the load (AD and AR pathology) was identified both between districts and within the districts, as well as between the urban and rural populations. A correlation analysis of genetic load and values of random inbreeding was conducted to determine the reasons for the differences found. The nosological spectrum of the most frequent forms of HSD in the child population of the RR is described. Conclusion: the influence of the genetic structure of the studied populations (in terms of subdivision and migration characteristics) on the values of the genetic load of HSD is shown. Comparative analysis of a total load of HSD in child and adult populations in different districts showed the prevalence of the hereditary load of HSD in the child population over the adult population in 0.5-3.5 times.