APPLICATION OF SANGER SEQUENCING TO DETECT MITOCHONDRIAL DNA VARIANTS

Lê Thái Khương1, Hồ Quốc Chương1, Dương Bích Trâm1, Hoàng Anh Vũ1,2,
1 Center For Molecular Biomedicine, University of Medicine and Pharmacy at Ho Chi Minh City
2 University of Medicine and Pharmacy at Ho Chi Minh City

Main Article Content

Abstract

Aim: Mitochondria play a critical role in the generation of metabolic energy in eukaryotic cells. Mitochondrial DNA is assumed to experience a higher mutation rate than nuclear DNA and mitochondrial DNA mutation is one of the major causes of human diseases. This study aims to detect mitochondrial DNA mutations using Sanger sequencing technique. Materials and methods: Mitochondrial DNA was extracted from peripheral blood samples of patients with mitochondrial disorders. PCR and Sanger sequencing were thereafter established to identify mutations on mitochondrial DNA. Results: There were 19 cases carrying mitochondrial DNA variants among a total of 43 cases, in which m.3243A>G mutation accounted for the highest rate (73.68%). Conclusion: Detection of mitochondrial DNA variants has been successfully and effectively established via utilization of Sanger sequencing technique.

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References

1. Chinnery PF (2021) Primary mitochondrial disorders overview. GeneReviews®[Internet].
2. Mustafa MF, Fakurazi S, Abdullah MA, Maniam S (2020) Pathogenic mitochondria DNA mutations: current detection tools and interventions. Genes, 11(2):192.
3. Dai Y, Wang C, Nie Z, Han J, Chen T, Zhao X, Ai C, Ji Y, Gao T, Jiang P (2018) Mutation analysis of Leber's hereditary optic neuropathy using a multi gene panel. Biomedical Reports, 8(1):51-58.
4. Amor H, Hammadeh ME (2022) A Systematic Review of the Impact of Mitochondrial Variations on Male Infertility. Genes, 13(7):1182.
5. Lan Q, Xie T, Jin X, Fang Y, Mei S, Yang G, Zhu B (2019) MtDNA polymorphism analyses in the Chinese Mongolian group: Efficiency evaluation and further matrilineal genetic structure exploration. Molecular genetics & genomic medicine, 7(10): e00934.
6. Zhu Y, You J, Xu C, Gu X (2020) Associations of mitochondrial DNA 3777–4679 region mutations with maternally inherited essential hypertensive subjects in China. BMC Medical Genetics, 21(1):1-9.
7. Xu Y, Zhou J, Yuan Q, Su J, Li Q, Lu X, Zhang L, Cai Z, Han J (2021) Quantitative detection of circulating MT-ND1 as a potential biomarker for colorectal cancer. Bosnian Journal of Basic Medical Sciences, 21(5):577.
8. Kwon M-H, Joung C-I (2016) Genetic Associations of Mitochondrial DNA Polymorphisms with Behçet's Disease in a Korean Population: A Pilot Study. Journal of Rheumatic Diseases, 23(1):23-29.