Detection of mutations in mitochondrial DNA by droplet digital PCR
- 作者: Sofronova J.1, Ilinsky Y.1,2,3, Orishchenko K.1,2, Chupakhin E.1, Lunev E.1, Mazunin I.1
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隶属关系:
- Immanuil Kant Baltic Federal University
- Federal Research Center Institute of Cytology and Genetics
- Novosibirsk State University
- 期: 卷 81, 编号 10 (2016)
- 页面: 1031-1037
- 栏目: Molecular Biology of Mitochondria (Special Issue) Guest Editor — P. A. Kamenski
- URL: https://journals.rcsi.science/0006-2979/article/view/151019
- DOI: https://doi.org/10.1134/S0006297916100011
- ID: 151019
如何引用文章
详细
Mutations in mitochondrial DNA (mtDNA) may result in various pathological processes. Detection of mutant mtDNAs is a problem for diagnostic practice that is complicated by heteroplasmy – a phenomenon of the inferring presence of at least two allelic variants of the mitochondrial genome. Also, the level of heteroplasmy largely determines the profile and severity of clinical manifestations. Here we discuss detection of mutations in heteroplasmic mtDNA using up-todate methods that have not yet been introduced as routine clinical assays. These methods can be used for detecting mutations in mtDNA to verify diagnosis of “mitochondrial disease”, studying dynamics of mutant mtDNA in body tissues of patients, as well as investigating structural features of mtDNAs. Original data on allele-specific discrimination of m.11778G>A mutation by droplet digital PCR are presented, which demonstrate an opportunity for simultaneous detection and quantitative assessment of mutations in mtDNAs.
作者简介
J. Sofronova
Immanuil Kant Baltic Federal University
Email: IMazunin@kantiana.ru
俄罗斯联邦, Kaliningrad, 236038
Y. Ilinsky
Immanuil Kant Baltic Federal University; Federal Research Center Institute of Cytology and Genetics; Novosibirsk State University
Email: IMazunin@kantiana.ru
俄罗斯联邦, Kaliningrad, 236038; Novosibirsk, 630090; Novosibirsk, 630090
K. Orishchenko
Immanuil Kant Baltic Federal University; Federal Research Center Institute of Cytology and Genetics
Email: IMazunin@kantiana.ru
俄罗斯联邦, Kaliningrad, 236038; Novosibirsk, 630090
E. Chupakhin
Immanuil Kant Baltic Federal University
Email: IMazunin@kantiana.ru
俄罗斯联邦, Kaliningrad, 236038
E. Lunev
Immanuil Kant Baltic Federal University
Email: IMazunin@kantiana.ru
俄罗斯联邦, Kaliningrad, 236038
I. Mazunin
Immanuil Kant Baltic Federal University
编辑信件的主要联系方式.
Email: IMazunin@kantiana.ru
俄罗斯联邦, Kaliningrad, 236038
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