medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2018.09.21-27medgen-581Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHРаспространенность 27-п.н. делеции гена множественной лекарственной устойчивости ABCC11Prevalence of the 27-bp deletion of the multidrug resistance gene ABCC11МакаровС. В.MakarovS. V.ecolab@med-gen.ruКарапетянМ. К.KarapetianM. K.noemail@neicon.ruБычковскаяЛ. С.BychkovskayaL. S.ecolab@med-gen.ruСпицынВ. А.SpitsynV. A.ecolab@med-gen.ruФГБНУ«Медико-генетический научный центр»РоссияFederal State Budgetary Institution «Research Centre for Medical Genetics»Russian FederationНаучно-исследовательский институт и Музей антропологии им.Д.Н.Анучина ФГБОУ ВО «Московский государственный университет имени М.В.Ломоносова»РоссияAnuchin Research Institute and Museum of Anthropology, Moscow State UniversityRussian Federation2018010920181792127Copyright © Макаров С.В., Карапетян М.К., Бычковская Л.С., Спицын В.А., 20182018Макаров С.В., Карапетян М.К., Бычковская Л.С., Спицын В.А.Makarov S.V., Karapetian M.K., Bychkovskaya L.S., Spitsyn V.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/581

Белки крупнейшего надсемейства АТФ-зависимых кассетных транспортеров имеют важные биологические функции по активному трансмембранному переносу молекул, модуляции ионных каналов в клетке. Мутации в генах этих белков ответственны за возникновение многих наследственных болезней, а также обусловливают эффекты лекарственной невосприимчивости в ответе на терапию. В настоящем исследовании был проведен анализ распространенности функционально значимой мутации в гене множественной лекарственной устойчивости. Впервые в России выявлены носители 27-п.н.-делеции в гене ABCC11 , ее частота среди алеутов составила 4,44%, среди калмыков - 0,36%. В остальных изученных популяциях - русских, хантов, нивхов, монголов, алтайцев - этой мутации (rs387906296) обнаружено не было. Проведено сравнение данных генотипированных выборок с мировым распределением частот встречаемости мутации.

Proteins of the ATP-binding cassette superfamily have important biological functions for active transmembrane transport of compounds, ion channels modulation in cells. Mutations in genes of this superfamily are responsible for the pool of hereditary diseases and cause the effect of multiple drug resistance response to chemotherapy as well. The frequency distribution of this functionally significant mutation in the multidrug resistance gene was analyzed in the present study. This is the first case of finding carriers of the ABCC11 gene 27-bp deletion in the ethnic groups of Russia. The revealed deletion allele frequency corresponds to 4.44% for the Aleuts and to 0.36% for the Kalmyks. The rest studied populations - Russians, Khants, Nivkhs, Mongols, Altaians were monomorphic for the absense of this (rs387906296) mutation. This study genotyping data were compared to the worldwide frequency distribution of the 27bp-deletion in the ABCC11 gene.

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