Частота мутации m.1555A>G гена MT-RNR1 митохондриальной ДНК у индивидуумов с нарушениями слуха в Якутии

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.

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