Abstract |
Vietnamese patients (106) tentatively diagnosed with encephalomyopathy were screened for the presence of 15 common point mutations in mitochondria using PCR-RFLP. The screened mutations include A3243G, T3271C and T3291C for Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS); A8344G and T8356C for Myoclonus Epilepsy and Rag-Red Fibers (MERRF); G11778A, G3460A and T14484C for Leber's Hereditary Optic Neuropathy (LHON); T8993G/C and T9176G for Leigh syndrome; A1555G for deafness syndrome; G4298A, T10010C, T14728C and T14709C for neuromuscular syndrome. As a result, 6 cases of A3243G (5.7%) and 2 cases of T14727C (3.9%) were found. The 6 cases of A3243G mutation were heteroplasmic at different levels (4.23-80.85%). The T14727C change was discovered for the first time in the MTTE gene encoding for tRNA(Glu) and showed homoplasmy. The T14727C change was probably a mutation because it was further confirmed as vertically inherited from the mother and not the result of isolated polymorphism.
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Authors | Hue Thi Truong, Van-Anh Thi Nguyen, Lieu Van Nguyen, Van-Anh Pham, Tuan-Nghia Phan |
Journal | Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis
(Mitochondrial DNA A DNA Mapp Seq Anal)
Vol. 27
Issue 1
Pg. 441-8
( 2016)
ISSN: 2470-1408 [Electronic] England |
PMID | 24708131
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
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Topics |
- Asian People
- DNA, Mitochondrial
- Female
- Genome, Mitochondrial
(genetics)
- Humans
- Leigh Disease
(genetics, pathology)
- Male
- Mitochondrial Encephalomyopathies
(genetics, pathology)
- Point Mutation
(genetics)
- Polymorphism, Genetic
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