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Genetic variant c.3140-16T>A (3272-16T>A) of the CFTR gene in patients of the Russian Federation is described

Genetic variant c.3140-16T>A (3272-16T>A) of the CFTR gene in patients of the Russian Federation is described

Publication of «Health Characteristics of Patients with Cystic Fibrosis whose Genotype Includes a Variant of the Nucleotide Sequence c.3140-16T>A and Functional Analysis of this Variant» in Genes (MDPI) with high Impact-Factor - 3.822 and CiteScore - Q2 has been a result of the FSBI RCMG researchers collaboration in the investigation of c.3140-16T>A (3272-16T>A) genetic variant of CFTR gene in Russian Federation patients, namely: Cystic Fibrosis Research and Counseling Department E.I. - Kondratieva, S.A. Krasovsky, Y.L. Melyanovskaya, A.E. Zodbinova, E.L. Amelina, E.K. Zhekaite, A.S. Efremova, T.B. Bukharova, N.V. Bulatenko, D.V. Goldstein, A.V. Polyakov, T.A. Adyan, DNA-diagnostics laboratory - K.A. Davydenko, A.Y. Filatova, M.Y. Skoblov, and the Genetic Epidemiology Laboratory - R.A. Zinchenko, N.V. Petrova, with the full assistance of S.I. Kutsev, Director, and participation of the Perm Medical University represented by Associate Professor V.V. Shadrina.

The c.3140-16T>A (3272-16T>A) variant of the CFTR gene was not previously described in international databases, but is frequent in Russia. The article provides a full clinical characteristic of this nucleotide sequence carriers of the CFTR gene in the genotype, but also performs instrumental, cellular, and functional tests and shows the possibility of using CFTR modulators.

Kondratieva, E.; Bukharova, T.; Efremova, A.; Melyanovskaya, Y.; Bulatenko, N.; Davydenko, K.; Filatova, A.; Skoblov, M.; Krasovsky, S.; Petrova, N.; Polyakov, A.; Adyan, T.; Amelina, E.; Shadrina, V.; Zhekaite, E.; Zodbinova, A.; Chernyak, A.; Zinchenko, R.; Kutsev, S.; Goldshtein, D. Health Characteristics of Patients with Cystic Fibrosis whose Genotype Includes a Variant of the Nucleotide Sequence c.3140-16T>A and Functional Analysis of this Variant. Genes 2021, 12, 837. 

https://doi.org/10.3390/genes12060837

https://www.mdpi.com/2073-4425/12/6/837