Medical genetic study of the Republic of North Ossetia Alania. I. Load of hereditary pathology in three districts

The results of medical genetic study of three Districts of the Republic of North Ossetia-Alania (RNOA) - Ardonsky, Pravoberezhny and Kirovsky, with a total number of 116897 people, are reviewed. A survey of the investigated Districts was conducted totally (regardless of nationality, age and gender structure), in accordance with the Protocol of genetic-epidemiological studies - development of the Research Centre for Medical Genetics. After the segregation analysis, we calculated the load of the main types of Mendelian hereditary pathology (AD, AR and X-linked) for the entire population of three regions of the Republic. Segregation analysis demonstrated good agreement between the observed and expected segregation frequencies for both AR and AD diseases. The load (per 1000 individuals) of Mendelian hereditary pathology (autosomal dominant, autosomal recessive and X-linked) was estimated. In the urban populations the load of autosomal dominant pathology was 3.62 in Ardonsky, 1.86 in Pravoberezhny and 2.10 in Kirovsky District; in the rural populations the load of autosomal dominant pathology was substantially higher: 5.33 (Ardonsky), 3.23 (Pravoberezhny), 4.13 (Kirovsky). The prevalence rates of autosomal recessive disorders in urban populations were per 1.17 in Ardonsky, 1.59 in Pravoberezhny and 2.82 in Kirovsky District. In the rural populations of these Districts they were 1.81 in Ardonsky, 2.38 in Pravoberezhny, 3.10 in Kirovsky District. The values of the load of X-linked pathology varied from 0.43 in the urban population of the Pravoberezhny District to 1.29 in the urban population of the Kirov District. Characteristics of the load of hereditary diseases of the considered Districts of RNOA are close to those that were obtained for the population of some areas of the Republic of the Volga-Ural region and the North Caucasus. In the Russian populations of the European part of Russia the values of load of hereditary pathology are significantly lower.

Republic of North Ossetia, груз моногенных наследственных болезней, медико-генетическое обследование населения, Республика Северная Осетия-Алания, load of monogenic hereditary diseases, load of monogenic hereditary diseases, medical genetical examination of population