ymjЯкутский медицинский журналYakut Medical Journal1813-19052312-1017ЯНЦ КМП10.25789/YMJ.2022.80.01ymj-111Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHАнализ частоты гетерозиготного носительства шести мутаций аутосомно-рецессивных заболеваний среди русских старожилов ЯкутииAnalysis of the frequency of heterozygous carriage of six mutations of autosomal recessive diseases among Russian old-settlers of YakutiaБарашковН. А.BarashkovN. A.

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

Barashkov Nikolay Alekseevich – PhD in Biology, external researcher, head of the lab.

barashkov2004@mail.ruЧердоноваА. М.CherdonovaA. M.

Чердонова Александра Матвеевна – аспирант

Cherdonova Alexandra Matveevna – post-graduate student 

СоловьевА. В.SolovyovA. V.

Соловьев Айсен Васильевич – к.б.н., н.с. 

Solovyev Aisen Vasilyevich – PhD in Biology

ПшенниковаВ. Г.PshennikovaV. G.

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

Pshennikova Vera Gennadiyevna – PhD in Biology, external researcher

ТерютинФ. М.TeryutinF. M.

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

Teryutin Fedor Mikhailovich – PhD in Medicine, senior researcher

РомановГ. П.RomanovG. P.

Романов Георгий Прокопьевич – м.н.с.

Romanov Georgy Prokopyevich – research associate

ФедороваС. А.FedorovaS. A.

Федорова Сардана Аркадьевна – д.б.н., с.н.с.

Fedorova Sardana Arkadyevna - MD, senior researcher

Якутский научный центр комплексных медицинских проблемРоссияYakut Science Centre for Complex Medical ProblemsRussian FederationФГАОУ ВО «Северо-Восточный федеральный университет им. М.К. Аммосова»РоссияFSAI M.K. Ammosov Northeastern Federal UniversityRussian FederationИн-т гуманитарных исследований и проблем малочисленных народов Севера СО РАНРоссияIn-t of humanitarian research and problems of the small peoples of the North of the Russian Academy of SciencesRussian Federation2022040220250459Copyright © Барашков Н.А., Чердонова А.М., Соловьев А.В., Пшенникова В.Г., Терютин Ф.М., Романов Г.П., Федорова С.А., 20252025Барашков Н.А., Чердонова А.М., Соловьев А.В., Пшенникова В.Г., Терютин Ф.М., Романов Г.П., Федорова С.А.Barashkov N.A., Cherdonova A.M., Solovyov A.V., Pshennikova V.G., Teryutin F.M., Romanov G.P., 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/111

В настоящей работе представлен анализ частоты гетерозиготного носительства мутаций, ответственных за возникновение шести аутосомно-рецессивных заболеваний (болезнь Вильсона-Коновалова, фенилкетонурия, врожденная глухота 1А типа, врожденная катаракта, ювенильная глухота и энзимопеническая метгемоглобинемия) у 30 неродственных индивидов из села Русское Устье (Аллаиховский район Якутии). В популяции русскоустьинцев мы не обнаружили гетерозиготного носительства мажорных мутаций, являющихся причиной фенилкетонурии (0/30), болезни Вильсона-Коновалова (0/30), врожденной катаракты (0/30), ювенильной глухоты (0/30) и энзимопенической метгемоглобинемии (0/30). С частотой гетерозиготного носительства 6,7% была выявлена мутация с.35delG гена GJB2 (2/30), что свидетельствует о наследственной отягощенности аутосомно-рецессивной глухотой 1 А типа в этой популяции Сибири.

Among the populations of Eastern Siberia, the Russian old-settlers of the village of Russkoe Ustye (Allaikhovsky district of Yakutia) occupy a special place: their origin is relations with people from the old possessions of Novgorod the Great (presumably around 1570). The investigation of the hypotheses of the origin of the people of Russkoe Ustye, are of considerable scientific interest for the study of the colonization process of Northern Eurasia. In this study analysis of the carrier frequency of the six mutations responsible for autosomal-recessive diseases in 30 unrelated individuals from the village of Russkoye Ustye was performed. In the population of the Russkoe Ustye we did not find any heterozygous mutations, which are the cause of phenylketonuria (0/30), Wilson disease (0/30), congenital cataract (0/30), progressive deafness (0/30), and methemoglobinemia (0/30). In this Siberian population with a carrier frequency of 6.7%, the c.35delG mutation of the GJB2 gene (2/30) responsible for autosomal recessive deafness 1 A was detected. The absence of local East-Siberian variants of founder mutations associated with congenital cataract, progressive deafness, and methemoglobinemia, which are prevalent among Turkic-speaking Yakuts, indicates that this Turkic component in population of Russkoe Ustye is absent or represented to a small extent. Increasingly, than the Turkic component in the in population of Russkoe Ustye is represented a common West-Eurasian component, as indicated by the presence of the c.35delG mutation of the GJB2 gene, which is common in Europe. 

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