|
|||||
|
|
The load and diversity of hereditary diseases in four raions of Rostov oblast |
|
| Authors: | S S Amelina N V Vetrova M A Amelina E V Degtereva T I Ponomareva G I Elchinova L K Michailova R A Zinchenko |
| Institution: | 1. Scientific Research Institute of Biology, Rostov-on-Don, 344090, Russia 2. Research Center for Medical Genetics, Russian Academy of Medical Sciences, Moscow, 115478, Russia 3. Priorov Central Research Institute, Ministry of Health of the Russian Federation, Moscow, 127299, Russia |
| Abstract: | The results of a medical genetic survey of the population of four raions (176535 individuals) of Rostov oblast (Dubovsky, Zimovnikovsky, Myasnikovsky, and Krasnosulinsky raions) are presented. The load of autosomal dominant (AD), autosomal recessive (AR), and X-linked hereditary diseases for urban and rural population was calculated, and the diversity of monogenic hereditary diseases (MHD) was reviewed. The nosological spectrum of MHD constituted 117 diseases (63 diseases with AD inheritance; 38, with AR inheritance; and 16, with X-linked inheritance). The analysis showed that the incidence of MHD among the population of Rostov oblast was 1: 336. Considerable differentiation in the prevalence rates of MHD (AD, AR, and X-linked pathologies) among certain raions was revealed. |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ | |