АНАЛИЗ СПЕКТРА ГАПЛОГРУПП мтДНК У ПАЦИЕНТОВ С НАРУШЕНИЯМИ СЛУХА, НЕСУЩИХ ВЕРОЯТНО-ПАТОГЕННЫЙ УЛЬТРАРЕДКИЙ ВАРИАНТ m.1494C>T В ГЕНЕ MT-RNR1

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Аннотация

Вклад в этиологию потери слуха ультраредкого варианта m.1494C>T гена MT-RNR1 мтДНК, ассоциированного с аминогликозид-индуцированной глухотой (MT-RNR1, OMIM 561000), остается неизученным в большинстве выборок индивидов с нарушениями слуха. В связи с этим цель настоящей работы – скрининг m.1494C>T гена MT-RNR1 мтДНК среди пациентов с нарушениями слуха в Республике Бурятия, с последующим анализом выявленных в мире митохондриальных линий, несущих данный ультраредкий вариант. Из открытых баз данных, литературных источников, а также по результатам полногеномного анализа мтДНК одного пациента с m.1494C>T, обнаруженного в настоящей работе, нами был проведен анализ митохондриальных линий для 27 пациентов из разных регионов мира, у которых был обнаружен данный ультраредкий вариант. У пациентов с m.1494C>T идентифицировано 19 различных гаплогрупп мтДНК, что, вероятно, свидетельствует о независимом возникновении варианта m.1494C>T. Однако в спектре выявленных гаплогрупп мы обнаружили преобладание гаплогруппы А*, частота которой в 13 раз превышала (χ2 = 45.274, p < 0.001) среднее значение частоты данной гаплогруппы в изученных ранее популяциях мира (1.45%, 519/35748). Избыточность гаплогруппы А* у индивидов с m.1494C>T может являться следствием их общего происхождения. Вероятность влияния эффекта основателя на распространенность MT-RNR1 повышает релевантность целенаправленного поиска m.1494C>T в ранее неисследованных когортах пациентов с нарушениями слуха, в первую очередь в регионах, где встречается гаплогруппа А* и ее дочерняя линия А2, – в Азии и в Америке.

Об авторах

Т. В. Борисова

Институт естественных наук Северо-Восточного федерального университета им. М.К. Аммосова; Якутский научный центр комплексных медицинских проблем;

Автор, ответственный за переписку.
Email: barashkov2004@mail.ru
Якутск, 677013 Россия; Якутск, 677000 Россия; Якутск, 677013 Россия; Якутск, 677013 Россия

А. М. Чердонова

Институт естественных наук Северо-Восточного федерального университета им. М.К. Аммосова; Якутский научный центр комплексных медицинских проблем

Email: barashkov2004@mail.ru
Якутск, 677013 Россия; Якутск, 677000 Россия; Якутск, 677013 Россия; Якутск, 677013 Россия

В. Г. Пшенникова

Якутский научный центр комплексных медицинских проблем

Email: barashkov2004@mail.ru
Якутск, 677000 Россия

Ф. М. Терютин

Якутский научный центр комплексных медицинских проблем

Email: barashkov2004@mail.ru
Якутск, 677000 Россия

И. В. Морозов

Новосибирский государственный университет; Институт химической биологии и фундаментальной медицины Сибирского отделения Российской академии наук

Email: barashkov2004@mail.ru
Новосибирск, 630090 Россия; Новосибирск, 630090 Россия

А. А. Бондарь

Институт химической биологии и фундаментальной медицины Сибирского отделения Российской академии наук

Email: barashkov2004@mail.ru
Новосибирск, 630090 Россия

О. А. Батурина

Институт химической биологии и фундаментальной медицины Сибирского отделения Российской академии наук

Email: barashkov2004@mail.ru
Новосибирск, 630090 Россия

М. Р. Кабилов

Институт химической биологии и фундаментальной медицины Сибирского отделения Российской академии наук

Email: barashkov2004@mail.ru
Новосибирск, 630090 Россия

Г. П. Романов

Институт естественных наук Северо-Восточного федерального университета им. М.К. Аммосова

Email: barashkov2004@mail.ru
Якутск, 677013 Россия

А. В. Соловьев

Институт естественных наук Северо-Восточного федерального университета им. М.К. Аммосова

Email: barashkov2004@mail.ru
Якутск, 677013 Россия

С. А. Федорова

Институт естественных наук Северо-Восточного федерального университета им. М.К. Аммосова; Якутский научный центр комплексных медицинских проблем

Email: barashkov2004@mail.ru
Якутск, 677013 Россия; Якутск, 677000 Россия

Н. А. Барашков

Институт естественных наук Северо-Восточного федерального университета им. М.К. Аммосова; Якутский научный центр комплексных медицинских проблем

Email: barashkov2004@mail.ru
Якутск, 677013 Россия; Якутск, 677000 Россия

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