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The features of spectrum and frequency of CFTR gene mutations in populations of Southern Russia and Northern Caucasus

[Cystic fibrosis]
Nika Valentinovna Petrova; Natalia Yuryevna Kashirskaya; Elena Ivanovna Kondratieva; Zalina Kazbekovna Getoeva; Tatyana Vasilyeva; Anna Yuryevna Voronkova; Victoria Davidovna Sherman; Rena Zinchenko;

The spectra and frequencies of CFTR pathogenic variants in CF patients from the Southern Federal District and North Caucasus regions were compared. 299 unrelated CF patients from the southern Russia and 165 from the North Caucasian Federal District were tested. Russians accounted for about 80 % of CF patients in the Southern Federal District. Variants F508del (58 %), CFTRdele2,3 (6 %) were prevalent in southern Russia which is typical for all Russian patients. The maximum frequency of F508del (65,5 %) was in the Krasnodar Territory, the minimum – in the Rostov Region (56.9 %), the frequency of CFTRdele2,3 was 8.7 % in the Rostov Region and 6 % in the Krasnodar Territory. In the North Caucasus, the most frequent variants were F508del (24 %), 1677delTA (23 %), W1282X (15 %). The most common variants in Russians from the Stavropol Territory were F508del (49.1 %) and CFTRdele2,3 (4.6 %); W1282X (88.9 %) – in Karachay CF patients; 1677delTA (67.3 %) and E92K (9.2 %) – in Chechen CF patients. In Ingush only 1677delTA variant was found. In CF Ossetian patients the variants W1282X and F508del were recurrent. A high diversity of the spectrum of CFTR variants (11/13 patients) and a high proportion of homozygous for different variants genotypes (61.5 %) was revealed in patients from Dagestan. This is probably due to marriage ethnic assortativeness. The differences of spectrum and frequency of CFTR variants in CF patients of the Southern Federal District and the North Caucasian Federal District is due to both geographical factors and a multi-ethnic composition of the population.


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Keywords: cystic fibrosis, spectrum and frequency of CFTR gene variants, Southern Russia, North Caucasus

Stavropol State Medical Academy
Pyatigorsk State Research Institute of Balneotherapeutics
Pyatigorsk State Pharmaceutical Academy