ymjЯкутский медицинский журналYakut Medical Journal1813-19052312-1017ЯНЦ КМП10.25789/YMJ.2018.63.04ymj-1063Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHАнализ устойчивости гетерозиготных носителей мутации С.-23+1G>A гена GJB2 к диарееThe analysis of the resistance of heterozygous carriers of the С.-23+1G>A mutation in GJB2 gene to diarrheaСоловьевА. В.SolovyevA. V.

Соловьев Айсен Васильевич – м.н.с.

Solovyev Aisen Vasilievich - Junior researcher, Laboratory of Molecular Biology Institute of Natural Sciences

677010, Sakha Republic, Yakutsk, Kulakovsky st. 46

Phone: 8-(914) 300-42-65 

nelloann@mail.ruБарашковН. А.BarashkovN. A.

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

Barashkov Nikolai Alekseevich - Candidate of Biological Sciences, Head of laboratory of Molecular genetics

677010, Sakha Republic, Yakutsk, Sergelyakhskoye Shosse, 4

Phone: 8-(4112) 32-19-81

barashkov2004@mail.ruСаввиноваК. Е.SavvinovaK. E.

Саввинова Куннэй Егоровна – студент

Savvinova Kiunniai Egorovna – Student, Department of Biology, Institute of Natural Sciences

677010, Sakha Republic, Yakutsk, Kulakovsky st. 48

Phone: 8-(4112) 49-68-42

potapova.kyuna@mail.ruГотовцевН. Н.GotovtsevN. N.

Готовцев Ньургун Наумович – н.с.

Gotovtsev Nyurgun Naumovich - Scientific Researcher, Laboratory of Molecular Genetics

677010, Sakha Republic, Yakutsk, Sergelyakhskoye Shosse, 4

Phone: 8-(914)106- 20-15

Donzcrew@mail.ruТерютинФ. М.TeryutinF. M.

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

Terutin Fedor Mikhailovich - Candidate of Medicine Sciences, Senior Researcher of Laboratory of Molecular Biology Institute of Natural Sciences

677010, Sakha Republic, Yakutsk, Kulakovsky st. 46

rest26@mail.ruПшенниковаВ. Г.PshennikovaV. G.

Пшенникова Вера Геннадиевна – к.б.н., руковод. лаб.

Pshennikova Vera Gennadievna - Scientific Researcher, Laboratory of Molecular Genetics

677010, Sakha Republic, Yakutsk, Sergelyakhskoye Shosse, 4

Phone: 8-(4112) 32- 19-81

psennikovavera@mail.ruРомановГ. П.RomanovG. P.

Романов Георгий Прокопьевич – инженер

Romanov Georgii Prokopievich - Engineer, Laboratory of Molecular Biology Institute of Natural Sciences

677010, Sakha Republic, Yakutsk, Kulakovsky st. 46

gpromanov@gmail.comРафаиловА. М.RafailovA. M.

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

Rafailov Adum Mikhailovich - Candidate of Biological Sciences, Associate Professor of Department of Biology, Institute of Natural Sciences

677010, Sakha Republic, Yakutsk, Kulakovsky st. 48

Phone: 8-(4112) 49-68-42

archinay@mail.ruСазоновН. Н.SazonovN. N.

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

Sazonov Nikolay Nikitich - Doctor of Biological Sciences, Professor of Department of Biology, Institute of Natural Sciences

677010, Sakha Republic, Yakutsk, Kulakovsky st. 48

Phone: 8-(4112) 49-68-42

saznikol@mail.ruДжемилеваЛ. У.DzhemilevaL. U.

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

Dzhemileva Lilya Useinovna - Doctor of Medicine Sciences, Senior Researcher of Laboratory of Human Molecular Genetics

450054, Yakutsk, Prospect of October 71

Phone: 8-(3472) 35-60-88

dzhemilev@mail.ruПосухО. Л.PosukhO. L.

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

Posukh Olga Leonidovna - Candidate of Biological Sciences, Senior Researcher of Laboratory of Human Molecular Genetics

630090, Novosibirsk, Lavrentiev avenue, 10

Phone: 8-(383)363- 49-44 

posukh@bionet.nsc.ruХуснутдиноваЭ. К.KhusnutdinovaE. K.

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

Khusnutdinova Elza Kamilevna - Doctor of biological sciences, Professor, Director

450054, Ufa, Prospect of October, 71

Phone: 8-(3472) 35-60-88

elkh@anrb.ruФедороваС. А.FedorovaS. A.

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

Fedorova Sardana Arkadievna - Doctor of biological sciences, Head of the Research Laboratory of Molecular Biology Institute of Natural Sciences

677010, Sakha Republic, Yakutsk, Kulakovsky st. 46

sardaanafedorova@mail.ruИЕН СВФУ им. М.К. АммосоваРоссияFederal State Autonomous Educational Institution of Higher Education “North-Eastern Federal University M.K. Ammosov”Russian FederationЯНЦ КМПРоссияFederal State Budgetary Scientific Institution “Yakutsk Scientific Center of Complex Medical Problems”Russian FederationИЕН СВФУ им. М.К. АммосоваРоссияFederal State Autonomous Educational Institution of Higher Education “North-Eastern Federal University. M.K. Ammosov”Russian FederationЯНЦ КМПРоссияFederal State Budgetary Scientific Institution “Yakut Science Center of Complex Medical Problems”Russian FederationЯНЦ КМПРоссияFederal State Autonomous Educational Institution of Higher Education “North-Eastern Federal University M.K. Ammosov”Russian FederationЯНЦ КМПРоссияFederal State Budgetary Scientific Institution “Yakutsk Scientific Center for Complex Medical Problems”, postgraduate student of NEFURussian FederationИЕН СВФУ им. М.К. АммосоваРоссияFederal State Autonomous Educational Institution of Higher Education “North-Eastern Federal University. M.K. Ammosov “Russian FederationИнститут биохимии и генетики Уфимского науч. центра РАНРоссияFederal State Budgetary Institute of Science Institute of Biochemistry and Genetics; Ufa Federal Research Center of the Russian Academy of SciencesRussian FederationИнститута цитологии и генетики СО РАН (г. Новосибирск)РоссияThe Federal Research Center Institute of Cytology And Genetics The Siberian Branch of The Russian Academy of SciencesRussian FederationИнститут биохимии и генетики Уфимского науч. центра РАНРоссияInstitute of Biochemistry and Genetics, Ufa Federal Research Center of the Russian Academy of SciencesRussian Federation201828082025031517Copyright © Соловьев А.В., Барашков Н.А., Саввинова К.Е., Готовцев Н.Н., Терютин Ф.М., Пшенникова В.Г., Романов Г.П., Рафаилов А.М., Сазонов Н.Н., Джемилева Л.У., Посух О.Л., Хуснутдинова Э.К., Федорова С.А., 20252025Соловьев А.В., Барашков Н.А., Саввинова К.Е., Готовцев Н.Н., Терютин Ф.М., Пшенникова В.Г., Романов Г.П., Рафаилов А.М., Сазонов Н.Н., Джемилева Л.У., Посух О.Л., Хуснутдинова Э.К., Федорова С.А.Solovyev A.V., Barashkov N.A., Savvinova K.E., Gotovtsev N.N., Teryutin F.M., Pshennikova V.G., Romanov G.P., Rafailov A.M., Sazonov N.N., Dzhemileva L.U., Posukh O.L., Khusnutdinova E.K., 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/1063

В настоящей работе представлены результаты анализа устойчивости гетерозиготных носителей мутации с.-23+1G>A гена GJB2 к диарее в Якутии. было показано, что у индивидов с мутацией с.-23+1G>A в гетерозиготном состоянии достоверно реже (p<0,05) регистрировались случаи диареи за последний год, нежели у индивидов без мутации. Полученные результаты свидетельствуют о том, что гетерозиготные носители мутации c.-23+1G>A гена GJB2 могут иметь повышенную устойчивость к желудочно-кишечным инфекциям, в частности к диарее.

In this paper, we present the results of an analysis of the resistance of heterozygous carriers of the с.-23+1G>A mutation in GJB2 gene to diarrhea in Yakutia. It was shown that in individuals with c.-23 + 1G> A mutation in the heterozygous state, cases of diarrhea for the last year were registered less frequently (p < 0.05) than in individuals without mutation. The research results support evidence that heterozygous carriers of GJB2 gene mutations may have increased resistance to gastrointestinal diseases, in particular to diarrhea.

ген GJB2диареямутация c.-23+1G>Aгетерозиготное носительствоGJB2 genediarrheac.-23+1G>A mutationheterozygous carriersРабота выполнена в рамках Государственного задания Министерства образования и науки РФ №6.1766.2017 ПЧ, проекта СВФУ им. М.К. Аммосова: «Генетические особенности населения Якутии: структура генофонда, адаптация к холоду, психогенетические характеристики, распространенность некоторых наследственных и инфекционных заболеваний», НИР ЯНЦ КМП «Изучение генетической структуры и груза наследственной патологии популяций Республики Саха (Якутия)», программы биоресурсных коллекций ФАНО России УНУ «Геном Якутии» ЯНЦ КМП (БРК: 0556-2017-0003) и грантов РФФИ №17-29-06016-офи-м, №18-54- 16004_НЦНИЛ_а, №18-015-00212_А, №18-013-00738_А, №18-05-60035_Арктика.We thank all participants of this study. The study was supported by the Ministry of Education and Science of the Russian Federation №6.1766.2017, Project NEFU M.K. 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The authors declare that there are no conflicts of interest present.