Genetic Epidemiology of Hereditary Diseases among the Child Population in Eight districts of Tatarstan Republic

Abstract

The results of the genetic epidemiological study of monogenic hereditary disorders (MHDs) among child population of eight districts of Tatarstan Republic are presented in the report. The total size of the investigated population is 268,894 individuals, from which the proportion of child population makes 21.44% (57648 children). The total population was examined by standard protocol of medical genetic research elaborated in laboratory of genetic epidemiology, Research Centre for Medical Genetics. About 3500 MHDs of OMIM could be identified by this protocol. Clinical investigations were performed by neurologists, ophthalmologists, orthopedic, otolaryngologists, dermatologists, pediatricians and clinical geneticists, focused on diagnostic of MHDs. The spectrum of MHDs detected in the eight districts RT comprises 256 diseases, including 135 autosomal dominant (AD), 97 autosomal recessive (AR), and 24 X-linked diseases. The MHDs diversity in the child population of RT comprised 158 diseases (61.72% the total number of registration disorders), including 84 (62.22%) AD, 54 (55.67%) AR, and 20 (83.33%) X-linked ones. The load of MHDs (AD, AR and X-linked) in rural and urban child population is calculated, the variety of common MHDs is described. The prevalence of MHDs among children from Tatarstan region occurs to be 1:103. Significant differentiation in the values of the MHDs load (AD, AR and X-linked disorders combined) between districts was detected. An attempt to explain the revealed differences is undertaken.