Population genetic epidemiology of cystic fibrosis in the Republic of Bashkortostan

Abstract

Introduction. Сystic fibrosis (CF) is characterized by pronounced genetic heterogeneity and, in this regard, clinical variability, occurs in all countries of the world, but there are pronounced population differences in its frequency with decreasing gradient of distribution from North to South and from West to East of Eurasia.

Aim: the study of regional clinical, genetic and epidemiologic features of CF for the development of optimal algorithms for diagnosis and treatment of the disease is relevant.

Patients and Methods. The molecular genetic study included 1403 people, including family members, control and population samples, observed from 1998 to 2023 in the Republican Medical and Genetic Center (Ufa). Clinical and laboratory and molecular genetic methods of research, bioinformatic processing of NGS sequencing results were used.

Results. Genetic heterogeneity of CF by spectrum and frequencies of pathogenic changes in CFTR gene in ethnic groups of RB was revealed; mutations 3849+10kbC->T, p.[G509D;E217G] are specific for patients of Tatar and Bashkir ethnicity, 394delTT and p.[S466X;R1070Q] – for Tatars.

Conclusion. Introduction of molecular genetic technologies, allowed to develop an effective algorithm of DNA-diagnosis of the disease.