{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,30]],"date-time":"2026-08-30T20:56:34Z","timestamp":1788123394594,"version":"build-2803163510"},"reference-count":76,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2024,10,17]],"date-time":"2024-10-17T00:00:00Z","timestamp":1729123200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ministry of Science and Higher Education of the Russian Federation","award":["075-15-2022-310"],"award-info":[{"award-number":["075-15-2022-310"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background\/Objectives: Cystic fibrosis (CF) is one of the most common autosomal-recessive disorders worldwide. The incidence of CF depends on the prevalence of cystic fibrosis transmembrane conductance regulator gene (CFTR) mutations in the population, which is determined by genetic diversity and ethnicity. Methods: The search for the causes of mutations in the transmembrane conductance regulator gene (CFTR) was carried out using targeted next-generation sequencing (NGS) on the Illumina platform in patients with cystic fibrosis from the Republic of Bashkortostan (Russia), taking into account the ethnic structure of the sample. Results: A total of 35 distinct causal variants were found in 139 cases from 129 families. Five (F508del, E92K, 3849+10kbC&gt;T, CFTRdele2.3, L138ins) explain 78.7% of identified CF causal alleles. Variants N13103K and 394delTT were found in four families each. Variants 2143delT, S1196X, W1282X, Y84X, G194R, and 1525-1G&gt;A, as well as the two previously described complex alleles\u2014c. [S466X; R1070Q] and str.[G509D;E217G]\u2014were found in two or three families each. Twenty additional variants occurred only once. Variant c.3883_3888dup has not been described previously. Thus, regional and ethnic features were identified in the spectrum of frequencies of pathogenic variants of the CFTR gene in the three major sub-groups of patients\u2014Russians, Tatars, and Bashkirs. Conclusions: Taking into account these results, highlighting the genetic specificity of the region, a more efficient search for CFTR mutations in patients can be performed. In particular it is possible to choose certain test kits for quick and effective genetic screening before use of NGS sequencing.<\/jats:p>","DOI":"10.3390\/genes15101335","type":"journal-article","created":{"date-parts":[[2024,10,17]],"date-time":"2024-10-17T08:56:32Z","timestamp":1729155392000},"page":"1335","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Population Characteristics of the Spectrum and Frequencies of CFTR Gene Mutations in Patients with Cystic Fibrosis from the Republic of Bashkortostan (Russia)"],"prefix":"10.3390","volume":"15","author":[{"given":"Guzel","family":"Ayupova","sequence":"first","affiliation":[{"name":"Department of Medical Genetics and Fundamental Medicine, Bashkir State Medical University, 450008 Ufa, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergey","family":"Litvinov","sequence":"additional","affiliation":[{"name":"Institute of Biochemistry and Genetics, 450000 Ufa, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vita","family":"Akhmetova","sequence":"additional","affiliation":[{"name":"Institute of Biochemistry and Genetics, 450000 Ufa, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7045-8215","authenticated-orcid":false,"given":"Ildar","family":"Minniakhmetov","sequence":"additional","affiliation":[{"name":"Endocrinology Research Centre, 117292 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia","family":"Mokrysheva","sequence":"additional","affiliation":[{"name":"Endocrinology Research Centre, 117292 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8643-850X","authenticated-orcid":false,"given":"Rita","family":"Khusainova","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Fundamental Medicine, Bashkir State Medical University, 450008 Ufa, Russia"},{"name":"Institute of Biochemistry and Genetics, 450000 Ufa, Russia"},{"name":"Endocrinology Research Centre, 117292 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,10,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1111\/apa.15155","article-title":"Cystic fibrosis in the year 2020: A disease with a new face","volume":"109","year":"2020","journal-title":"Acta Paediatr."},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Petrova, N.V., Kashirskaya, N.Y., Vasilyeva, T.A., Kondratyeva, E.I., Zhekaite, E.K., Voronkova, A.Y., Sherman, V.D., Galkina, V.A., Ginter, E.K., and Kutsev, S.I. 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