ymjЯкутский медицинский журналYakut Medical Journal1813-19052312-1017ЯНЦ КМПymj-944Research ArticleМатериалы научно-практической конференции с международным участием «Современные подход ы и перспектив ы генетических исследовани й в Якутии », 7 сентября 2017 г., г. ЯкутскMaterials of the scientific-practical conference with international participation «Modern App roaches and Prospects of Genetic Research in Yakutia», September 7, 2017, YakutskЧастота мутации m.1555A>G гена MT-RNR1 митохондриальной ДНК у индивидуумов с нарушениями слуха в ЯкутииFrequency of m.1555a>g mutation in MT-RNR1 gene of mitochondrial DNA among deaf individuals in YakutiaРомановГ. П.RomanovG. P.

Романов Георгий Прокопьевич – аспирант 

 ROMANOV Georgii Prokopievich – post-graduate student 

gpromanov@gmail.comБарашковН. А.BarashkovN. A.

Барашков Николай Алексеевич – к.б.н., руковод. лаб. 

 BARASHKOV Nikolay Alekseevich – PhD, Head. of Lab 

ТерютинФ. М.TeryutinF. M.

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

 TERYUTIN Fedor Mikhailovich – MD, PhD, Sen. Res. 

ПшенниковаВ. Г.PshennikovaV. G.

Пшенникова Вера Геннадиевна – н.с. 

 PSHENNIKOVA Vera Gennadievna – Res.  

СоловьевА. В.SolovievA. V.

Соловьев Айсен Васильевич – аспирант 

 SOLOVYEV Aisen Vasilyevich – post-graduate student 

РафаиловА. М.RafailovА. M.

 РАФАИЛОВ Адюм Михайлович – к.б.н., доцент 

 RAFAILOV Adyum Mikhailovich – PhD, assistant professor 

СазоновН. Н.SazonovN. N.

Сазонов Николай Никитич – д.б.н., проф. 

 SAZONOV Nikolay Nikitich – PhD, professor 

ДжемилеваЛ. У.DzhemilevaL. U.

Джемилева Лиля Усеиновна – д.м.н., с.н.с. 

 DZHEMILEVA Lilya Useinovna - PhD, Sen. Res. 

Ufa

ПосухО. Л.PosukhO. L.

Посух Ольга Леонидовна – к.б.н., с.н.с. 

 POSUKH Olga Leonidovna – MD, PhD, Sen. Res. 

Novosibirsk

ХуснутдиноваЭ. К.KhusnutdinovaE. К.

Хуснутдинова Эльза Камилевна – д.б.н., проф., директор

 KHUSNUTDINOVA Elza Kamilevna – PhD, professor, Director

Ufa

ФедороваС. А.FedorovaS. A.

Федорова Сардана Аркадьевна – д.б.н., зав. лаб. 

 FEDOROVA Sardana Arkadyevna – PhD, Head. of Lab. 

СВФУ им. М.К. АммосоваРоссияMK Ammosov NEFURussian FederationЯНЦ КМПРоссияYSC CMPRussian FederationСВФУ им М.К. АммосоваРоссияMK Ammosov NEFURussian FederationИБГ УНЦ РАНРоссияIBG USC RASRussian FederationФИЦ ИЦИГ СО РАНРоссияFRC ICG SB RASRussian Federation201722082025034951Copyright © Романов Г.П., Барашков Н.А., Терютин Ф.М., Пшенникова В.Г., Соловьев А.В., Рафаилов А.М., Сазонов Н.Н., Джемилева Л.У., Посух О.Л., Хуснутдинова Э.К., Федорова С.А., 20252025Романов Г.П., Барашков Н.А., Терютин Ф.М., Пшенникова В.Г., Соловьев А.В., Рафаилов А.М., Сазонов Н.Н., Джемилева Л.У., Посух О.Л., Хуснутдинова Э.К., Федорова С.А.Romanov G.P., Barashkov N.A., Teryutin F.M., Pshennikova V.G., Soloviev A.V., Rafailov А.M., Sazonov N.N., Dzhemileva L.U., Posukh O.L., Khusnutdinova E.К., Fedorova S.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/944

Проведено молекулярно-генетическое тестирование на наличие мутации m.1555A>G в гене MT-RNR1 митохондриальной ДНК в состоянии пациентов с нарушениями слуха, проживающих в Якутии, в результате которого мутация m.1555A>G не была выявлена. В целом при объединении данных этой работы с предыдущим исследованием (n=65 и n=108), частота мутации m.1555A>G в Якутии составила 0,57% (1/173), а среди пациентов якутов частота данной мутации оказалась равной 0,92% (1/108). В сравнении с общемировыми данными уточненная нами частота мутации m.1555A>G в Якутии (0,57%) оказалась относительно низкой.

It has been established that the mutation m.1555A>G in the MT-RNR1 gene in the homoplasmic state is associated with non-syndromic sensorineural hearing loss caused by the use of aminoglycoside antibiotics in many families of different ethnic origin. Earlier, the m.1555A>G mutation was detected on a small sample of patients (n = 65) in Yakutia with a frequency of 1.54%. In this study, we performed a search of the m.1555A>G mutation among additional sample of 108 hearing impaired individuals from Yakutia (Eastern Siberia, Russia). As a result, we found no mutation in this sample. When combining both samples (n=65 and n=108), the m.1555A>G mutation frequency in Yakutia is – 0.57% (1/173), and among the Yakut patients frequency of this mutation is 0.92% (1/108). The frequency of the m.1555A>G mutation among deaf patients in Yakutia is 0.57%, and is relatively low when compared with the global data.

глухотамитохондриальный геномm.1555A>GMT-RNR1Якутияhearing lossmitochondrial genomem.1555A>GMT-RNR1YakutiaАвторы выражают искреннюю признательность всем участникам исследования, а также сотрудникам Якутского отделения Всероссийского общества глухих за помощь в сборе материала и услуги сурдоперевода: Л.А. Николаевой, О.Н. Гарюхиной и Е.Д. Скрябиной. Работа выполнена при финансовой поддержке грантов РФФИ (15-04- 04860_а, 16-34-00564_мол_а, 16-34- 00234_мол_а), НОФМУ №201604010214, госзадания Минобрнауки РФ №6.1766.2017 ПЧ и проекта ПНИ ФАНО России №556.The authors are sincerely grateful to all the participants of the study, as well as to the cooperators from Yakut branch of Russian society of Deaf for sign language interpretation: L.A. Nikolaeva, O.N. Garyukhina, E.D. Skryabina. 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The authors declare that there are no conflicts of interest present.