Detection and quantitation of mitochondrial G11778A mutation of LHON syndrome in a Vietnamese patient with tentatively diagnosed mitochondrial disease
tr. 20-25
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2017
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oai:112.137.131.14:VNU_123-606012017-12-12T20:02:15Z Detection and quantitation of mitochondrial G11778A mutation of LHON syndrome in a Vietnamese patient with tentatively diagnosed mitochondrial disease Phát hiện và định lượn đột biến ty thể G11778A của Hội chứng LHON ở bệnh nhân nghi bệnh ty thể Phung, Bao Khanh Nguyen, Van Minh Nguyen, Thi Hong Loan Pham, Van Anh ... quantitation of mitochondrial G11778A mutation of LHON tentatively diagnosed tr. 20-25 G11778A mutation in the ND4 gene of human mitochondrial genome accounts for 50-70% of LHON syndrome. In this study, we set up real-time PCR using fluorescent Taqman probe with locked nucleic acid nucleotide (LNA) for detection and quantitation of mitochondrial genome mutation G11778A. The real-time PCR showed a linear correlation between logarithm of target gene copy number and threshold value (Ct) with a high regression value R2 = 0.999. By using PCR-RFLP in combination of real-time PCR, we found a 7.5 month girl patient carrying G11778A mutation. The mutation was present at 2.71±0.12% of heteroplasmy. whereas her parents did not carry this mutation. This is the first case with the mutation G11778A found in Vietnam. 2017-12-12T02:43:34Z 2017-12-12T02:43:34Z 2017 Article 2588-1140 http://repository.vnu.edu.vn/handle/VNU_123/60601 other Tập 33;Số 2S application/pdf ĐHQGHN |
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Vietnam |
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quantitation of mitochondrial G11778A mutation of LHON tentatively diagnosed |
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quantitation of mitochondrial G11778A mutation of LHON tentatively diagnosed Phung, Bao Khanh Nguyen, Van Minh Nguyen, Thi Hong Loan Pham, Van Anh ... Detection and quantitation of mitochondrial G11778A mutation of LHON syndrome in a Vietnamese patient with tentatively diagnosed mitochondrial disease |
| description |
tr. 20-25 |
| format |
Article |
| author |
Phung, Bao Khanh Nguyen, Van Minh Nguyen, Thi Hong Loan Pham, Van Anh ... |
| author_facet |
Phung, Bao Khanh Nguyen, Van Minh Nguyen, Thi Hong Loan Pham, Van Anh ... |
| author_sort |
Phung, Bao Khanh |
| title |
Detection and quantitation of mitochondrial G11778A mutation of LHON syndrome in a Vietnamese patient with tentatively diagnosed mitochondrial disease |
| title_short |
Detection and quantitation of mitochondrial G11778A mutation of LHON syndrome in a Vietnamese patient with tentatively diagnosed mitochondrial disease |
| title_full |
Detection and quantitation of mitochondrial G11778A mutation of LHON syndrome in a Vietnamese patient with tentatively diagnosed mitochondrial disease |
| title_fullStr |
Detection and quantitation of mitochondrial G11778A mutation of LHON syndrome in a Vietnamese patient with tentatively diagnosed mitochondrial disease |
| title_full_unstemmed |
Detection and quantitation of mitochondrial G11778A mutation of LHON syndrome in a Vietnamese patient with tentatively diagnosed mitochondrial disease |
| title_sort |
detection and quantitation of mitochondrial g11778a mutation of lhon syndrome in a vietnamese patient with tentatively diagnosed mitochondrial disease |
| publisher |
ĐHQGHN |
| publishDate |
2017 |
| url |
http://repository.vnu.edu.vn/handle/VNU_123/60601 |
| _version_ |
1680962825687662592 |