medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2021.07.26-36medgen-1946Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHСпектр и частота мутаций гена GJB2 (Сх26) у пациентов с нарушениями слуха в Республике БурятияSpectrum and frequency of GJB2 (Cx26) gene mutations in patients with hearing impairments in the Republic of BuryatiaПшенниковаВ. Г.PshennikovaV. G.psennikovavera@mail.ruЧердоноваА. М.CherdonovaA. M.noemail@neicon.ruТерютинФ. М.TeryutinF. M.noemail@neicon.ruРомановГ. П.RomanovG. P.noemail@neicon.ruСоловьевА. В.SolovyevA. V.noemail@neicon.ruФедороваС. А.FedorovaS. A.noemail@neicon.ruБарашковН. А.BarashkovN. A.noemail@neicon.ruФГБНУ «Якутский научный центр комплексных медицинских проблем»РоссияYakut Scientific Center for Complex Medical ProblemsRussian FederationФГАОУ ВО «Северо-Восточный федеральный университет им. М.К. Аммосова»РоссияM.K. Ammosov North-Eastern Federal UniversityRussian FederationФГБНУ «Якутский научный центр комплексных медицинских проблем»; ФГАОУ ВО «Северо-Восточный федеральный университет им. М.К. Аммосова»РоссияYakut Scientific Center for Complex Medical Problems; M.K. Ammosov North-Eastern Federal UniversityRussian Federation2021281020212072636Copyright © Пшенникова В.Г., Чердонова А.М., Терютин Ф.М., Романов Г.П., Соловьев А.В., Федорова С.А., Барашков Н.А., 20212021Пшенникова В.Г., Чердонова А.М., Терютин Ф.М., Романов Г.П., Соловьев А.В., Федорова С.А., Барашков Н.А.Pshennikova V.G., Cherdonova A.M., Teryutin F.M., Romanov G.P., Solovyev A.V., Fedorova S.A., Barashkov N.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/1946

В диагностике наследственной несиндромальной потери слуха высокую информативность обеспечивают методы молекулярно-генетического анализа мутаций гена GJB2 (Cx26). Впервые в Республике Бурятия (Восточная Сибирь) путем прямого секвенирования были определены спектр и частота мутаций гена GJB2 у 165 индивидов с нарушениями слуха. В обследованной выборке было обнаружено 13 известных аллельных вариантов гена GJB2 (c.-254C>T, c.-49G>A, c.-23+1G>A, c.35delG, c.79G>A, c.101T>C, c.109G>A, c.235delC, c.299_300delАТ, c.327_328delinsA, c.341A>G, c.457G>A и c.516G>C). У пациентов бурятов мутационный спектр был представлен пятью патогенными GJB2-вариантами: c.-23+1G>A (4,1%), c.109G>A (0,6%), c.235delC (1,4%), c.327_328delGGinsA (0,6%), c.516G>C (0,6%). Среди русских пациентов было обнаружено пять мутаций: c.35delG (25,7%), c.-23+1G>A (3,3%), c.101Т>С (0,6%), c.109G>A (1,9%), c.299_300delАТ (0,6%). Вклад биаллельных мутаций гена GJB2 в этиологию потери слуха в общей выборке пациентов из Бурятии составил 15,8% (26/165). При распределении пациентов по этнической принадлежности вклад биаллельных мутаций гена GJB2 в этиологию потери слуха у русских составил 28,9% (22/76), в то время как у бурятов лишь 5,1% (4/79). Таким образом, результаты нашего исследования свидетельствуют о том, что мутации гена GJB2 не являются основной причиной потери слуха у бурятов. Вероятно, у большей части GJB2-негативных пациентов потеря слуха может быть обусловлена мутациями в других генах, ответственных за развитие наследственных нарушений слуха.

In the diagnosis of hereditary non-syndromic hearing loss (HL), the methods of molecular genetic analysis of the GJB2 (Cx26) gene mutations provide high valuable information. For the first time, in the Republic of Buryatia (Eastern Siberia), the spectrum and frequency of GJB2 gene mutations were determined in a sample of 165 individuals with HL using sequencing of significant regions of the GJB2 gene. A total of 13 known allelic variants were found (c.-254C>T, c.-49G>A, c.-23+1G>A, c.35delG, c.79G>A, c.101T>C, c.109G>A, c.235delC, c.299_300delAT, c.327_328delinsA, c.341A>G, c.457G>A u c.516G>C). In the sample of Buryat patients, the mutation spectrum was represented by five GJB2 variants: c.-23+1G>A (4.1%), c.109G>A (0.6%), c.235delC (1.4%), c.327_328delGGinsA (0.6%), c.516G>C (0.6%). Five mutations were found among Russian patients: c.35delG (25.7%), c.-23+1G>A (3.3%), c.109G>A (1.9%), c.101T>C (0.6%), c.299_300delAT (0.6%). In general, the contribution of biallelic mutations of the GJB2 gene to the etiology of HL in the total sample of patients in Buryatia was 15.8% (26/165). When the total sample of patients was divided by ethnicity the contribution of biallelic mutations of the GJB2 gene to the etiology of HL in Buryat patients was 5.1% (4/79), and in Russian patients - 28.9% (22/76). Thus, the results of our study indicate that the mutations in the GJB2 gene are not the main cause of HL in Buryats. Probably, in some GJB2-negative patients (84.2% in our study), HL may be due to the mutations in other genes responsible for the development of hereditary hearing impairments.

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The authors declare that there are no conflicts of interest present.