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Features of spectrum of pathogenic genetic variants of the CFTR gene in patients with cystic fibrosis from Krasnoyarsk territory

[Cystic fibrosis]
Natalia Anatolievna Ilyenkova; Vladimir Viktorovich Chikunov; Elena Ivanovna Kondratieva;

The frequency of genetically significant mutations of the CFTR gene in different populations varies. The study examined the characteristics and diversity of the spectrum of pathogenic variants of the CFTR gene (ABCC7) in patients with CF 88 patients with CF in the Krasnoyarsk Territory. 19 pathogenic genetic variants of the CFTR gene were identified. The total share of 8 genetic variants: c.1521_1523delCTT (F508del), c.54-5940_273+10250del21kb (CFTRdele2,3), c.3909C>G (N1303K), c.2012delT (2143delT), c.2052_2053insA (2184insA), c.262_263delTT (394delTT), с.3484c>t (r1162x), с.(273+1_274-1)_(1679+1_1680-1)del (CFTRdele4-10) – is 76.68 %. Nine rare variants were detected once and in two cases twice. Thus, a variety of pathogenic variants of the CFTR gene sequence was revealed in CF patients in the Krasnoyarsk Territory, with a determination of the spectrum, their frequency of occurrence and distribution, depending on class and type.

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Keywords: cystic fibrosis, CFTR gene, Krasnoyarsk region, children, molecular diagnostic


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