ymjЯкутский медицинский журналYakut Medical Journal1813-19052312-1017ЯНЦ КМП10.25789/YMJ.2023.83.20ymj-269Research ArticleАКТУАЛЬНАЯ ТЕМАACTUAL TOPICАнализ варианта c.757A>G p.(Ile253Val) гена SLC26A4 у GJB2-негативных пациентов с потерей слуха в ЯкутииAnalysis of the c.757A>G p.(Ile253Val) variant of the SLC26A4 gene in GJB2-negative patients with hearing loss in Yakutiahttps://orcid.org/0000-0001-6866-9462ПшенниковаВ. Г.PshennikovaV. G.

ПШЕННИКОВА Вера Геннадиевна – к.б.н., в.н.с.

Якутск

PSHENNIKOVA Vera Gennadievna - PhD in Biology, leading researcher of the Laboratory of Molecular Genetics

psennikovave-ra@mail.ruhttps://orcid.org/0000-0002-8659-0886ТерютинФ. М.TeryutinF. M.

ТЕРЮТИН Федор Михайлович – к.м.н., н.с.

Якутск

TERYUTIN Fedor Mikhailovich - PhD (Medicine), researcher of the Laboratory of Molecular Genetics

rest26@mail.ruhttps://orcid.org/0000-0002-4168-9516ЧердоноваА. М.CherdonovaA. M.

ЧЕРДОНОВА Александра Матвеевна – м.н.с.

Якутск

CHERDONOVA Aleksandra Matveevna - junior researcher of the Research Laboratory of Molecular Biology

cherdon60@gmaii.comhttps://orcid.org/0000-0002-5019-067XБорисоваТ. В.BorisovaT. V.

БОРИСОВА Туяра Валерьевна – м.н.с.

Якутск

BORISOVA Tuyara Valerievna – junior researcher of the Research Laboratory of Molecular Biology

borisovatv96@gmail.comhttps://orcid.org/0000-0002-6952-3868ФедороваС. А.FedorovaS. A.

ФЕДОРОВА Сардана Аркадьевна – д.б.н., зав. науч.-иссл. лаб.

Якутск

FEDOROVA Sardana Arkadievna – MD in Biology,chief researcher, head of the Laboratory of Molecular Biology

sardaanafedorova@mail.ruhttps://orcid.org/0000-0002-6984-7934БарашковН. А.BarashkovN. A.

БАРАШКОВ Николай Алексеевич – к.б.н., в.н.с.-руковод. лаб.

Якутск

BARASHKOV Nikolay Alekseevich – PhD in Biology, leading researcher, head of the Laboratory of Molecular Genetics

barash-kov2004@mail.ruЯНЦ КМПРоссияYakut Science Centre of Complex Medical Problems (YSC CMP)Russian FederationСВФУ им. М.К. АммосоваРоссияM.K. Ammosov North-Eastern Federal University (NEFU)Russian Federation202306022025037984Copyright © Пшенникова В.Г., Терютин Ф.М., Чердонова А.М., Борисова Т.В., Федорова С.А., Барашков Н.А., 20252025Пшенникова В.Г., Терютин Ф.М., Чердонова А.М., Борисова Т.В., Федорова С.А., Барашков Н.А.Pshennikova V.G., Teryutin F.M., Cherdonova A.M., Borisova T.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://ymj.elpub.ru/jour/article/view/269

В работе проведен поиск варианта c.757A>G p.(Ile253Val) гена SLC26A4 у GJB2-негативных пациентов с потерей слуха и в контрольной группе слышащих индивидов в Якутии. В результате среди пациентов вариант был обнаружен с частотой 2,02%, в контрольной группе - 1,94%. Для интерпретации клинической значимости варианта был проведен анализ частоты встречаемости варианта и in silico оценка, результаты которых свидетельствуют в пользу вероятной доброкачественности варианта c.757A>G p.(Ile253Val) гена SLC26A4, поскольку на это указывают высокая частота встречаемости в популяционных выборах и то, что данная миссенс-замена теоретически не нарушает структурной стабильности белка пендрина (SLC26A4).

In this work, we searched for the missense variant c.757A>G p.(Ile253Val) of the SLC26A4 gene in GJB2-negative patients with hearing loss (n=201) and in the control group of hearing individuals (n=103) in Yakutia. As a result, this variant was detected with a frequency of 2.02% among patients, in the control group - 1.94%. To interpretation the clinical significance, a frequency analysis of this variant and in silico evaluation were performed, the results of which are in favor of the likely benign of the c.757A>G p.(Ile253Val) variant of the SLC26A4 gene, as indicated by the high frequency of occurrence in population samples, and the fact that this missense substitution theoretically does not violate the structural stability of the pendrin protein (SLC26A4).

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