International Union for Circumpolar Health Ministry of Public Health and Social Development of RF Russian Academy of Medical Sciences Siberian Branch of Russian Academy of Medical Sciences Siberian Branch of Russian Academy of Sciences Medical Polar Fund “Science” The Northern Forum

Abstracts

Genetics, demography, anthropology

The medical genetic study of the population of Khakasia Republic (Russia) was performed. Khakasia Republic is situated in the centre of South Siberia, the total population is 542.7 thousands people (the urban population – 336 thousands, the rural population – 206.7 thousands). Khakasia Republic is multinational. The most numerous ethnic groups are Russians (79.5%) and Khakass (11.1%), the other groups amount 9.4% (Ukrainians – 2.3%, Germans – 2%, Tatars – 0.8%, Belorussians – 0.7%, Chuvashes and Mordvinians about 0.6% and others).

As a result of study the 344 patients from 249 families with monogenic hereditary diseases were revealed. The 243 patients from 179 families were Russians, 89 patients from 60 families were Khakass. The 10 families with 12 patients were other nationalities (Armenians, Germans and Moldavians).

Thus, the 232 patients from 161 families were found with autosomal dominant diseases; the 92 patients from 77 families had autosomal recessive pathology; the 20 patients from 11 families were revealed with X-linked forms. The group of hereditary syndromes predominated in the structure of hereditary pathology (autosomal dominant – 44%, autosomal recessive – 41.7%, X-linked – 50%). The group of skeletal and connective tissue disorders was more often among autosomal dominant pathology (34%). The inborn metabolism defects and neurological pathology (19.4% and 14% respectively) were the most prevalent among autosomal recessive diseases.

Previously, we performed medical genetic study in different regions of Siberia (Tomsk region, Altai, Tuva and Yakutia Republics), but we identified rare syndromes such as Lesch-Nyhan, Werner, Diamond Blackfan, Bloch-Sulzberger and LEOPARD syndromes only in Khakasia. The studies of load and the prevalence of hereditary diseases in Khakasia Republic are continued.

Note. Abstracts are published in author's edition

© 1996-2005, Siberian Branch of Russian Academy of Sciences, Novosibirsk
Last update: 06-Jul-2012 (11:52:05)