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The Load of Hereditary Diseases in the Population of Republic of Sakha (Yakutia) |
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| Authors: | L A Tarskaya R A Zinchenko G I Elchinova A G Egorova M N Korotov E V Basova A M Prokopeva E N Sivtseva E E Nikolaeva E S Banshchikova M V Samarkina A N Sannikova G I Danilova A F Jhelobtsova A P Danilova G N Popova |
| Institution: | 1. Institute of Molecular Genetics, Russian Academy of Sciences, Moscow, 123182, Russia 2. Research Center for Medical Genetics, Russian Academy of Medical Sciences, Moscow, 115478, Russia 3. Ministry of Public Health of Republic of Sakha (Yakutia), Yakutsk, 677011, Republic of Sakha (Yakutia), Russia 4. Republican Center for Emergency Medical Care, Yakutsk, 677005, Republic of Sakha (Yakutia), Russia 5. National Center of Medicine, Yakutsk, 677010, Republic of Sakha (Yakutia), Russia 6. Yakut Republican Ophthalmologic Hospital, Yakutsk, 677005, Republic of Sakha (Yakutia), Russia 7. Institute of Health, Academy of Sciences of Republic of Sakha (Yakutia), Yakutsk, 677010, Republic of Sakha (Yakutia), Russia 8. Yakut State University, Yakutsk, 677013, Republic of Sakha (Yakutia), Russia |
| Abstract: | Summarized data of medical genetic survey of the population of Republic of Sakha (Yakutia) are presented. The number of the population examined constituted 1 000 700 individuals (including 424 500 of urban and 576 200 of rural population, respectively). Regarding the ethnicity, 33 regions of the Republic examined were at most inhabited by Yakuts (36%) and Russians (55%). A total of 400 families (606 patients) with autosomal dominant, 274 families (369 patients) with autosomal recessive, and 42 families (53 patients) with X-linked pathologies were detected. The segregation analysis performed showed good correlation with the expected type of inheritance for both dominant and recessive diseases. The prevalence rate of monogenic hereditary diseases for rural and urban populations, as well as for solely Yakuts, was calculated. It was shown that weighted average prevalence of dominant (0.68; 1.44) and recessive (0.43; 0.86) disorders in Yakuts was two times higher than in total population examined. |
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