Study of the genetic load and diversity of hereditary diseases in the Russian population of the Karachay-Cherkess Republic.

ABSTRACT: The genetic load and diversity of monogenic hereditary diseases (HD) in the Russian population of Karachay-Cherkess Republic (KCHR), living in 10 administrative and municipal divisions, were studied. The total size of the population surveyed was 410,367 people, including 134,756 Russians. In total, 385 patients from 281 families were registered among Russians of KCHR. Genetic load of AD, AR, and X-linked diseases (3.01 ± 0.32, 1.98 ± 0.26, and 1.23 ± 0.29, respectively) are more than twice higher in cities and municipal centers than in corresponding rural regions (1.00 ± 0.10, 0.89 ± 0.09, and 0.42 ± 0.09, respectively). The diversity of HD was 96 nosological forms: 56 diseases with AD type of inheritance (193 patients from 126 families), 28 clinical forms with AR (152 patients out of 124

SUBMITTER: Zinchenko RA 

PROVIDER: S-EPMC6146169 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature