4.0 Article

A Method for Measuring the Heteroplasmy Level of Mitochondrial DNA Mutations

期刊

RUSSIAN JOURNAL OF GENETICS
卷 54, 期 1, 页码 121-128

出版社

MAIK NAUKA/INTERPERIODICA/SPRINGER
DOI: 10.1134/S1022795417100064

关键词

mutation; mitochondrial genome; real-time PCR; heteroplasmy

资金

  1. Ministry of Education and Science of the Russian Federation [RFMEFI61314X0006]

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This paper presents a method for measuring the heteroplasmy level of mitochondrial DNA mutations, which is based on real-time PCR using TaqMan fluorescent probes. The method makes it possible to detect the heteroplasmy level of mtDNA mutations and has high accuracy and resolution. It shows significant differences between the parameters of heteroplasmy of patients belonging to different groups by the degree of disease. Application of this method, in particular, to determine the predisposition to atherosclerosis, makes it possible to determine whether the patient belongs to a low-, medium-, or high-risk group of atherosclerosis.

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