Detection and quantitation of mitochondrial G11778A mutation of LHON syndrome in a Vietnamese patient with tentatively diagnosed mitochondrial disease

Authors: Phung, Bao Khanh
Nguyen, Van Minh
Nguyen, Thi Hong Loan
Pham, Van Anh

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...

Title:	Detection and quantitation of mitochondrial G11778A mutation of LHON syndrome in a Vietnamese patient with tentatively diagnosed mitochondrial disease
Other Titles:	Phát hiện và định lượng đột biến ty thể G11778A của Hội chứng LHON ở bệnh nhân nghi bệnh ty thể
Authors:	Phung, Bao Khanh Nguyen, Van Minh Nguyen, Thi Hong Loan Pham, Van Anh ...
Keywords:	quantitation of mitochondrial;G11778A;mutation of LHON;tentatively diagnosed
Issue Date:	2017
Publisher:	ĐHQGHN
Series/Report no.:	Tập 33;Số 2S

Description:	tr. 20-25
URI:	http://repository.vnu.edu.vn/handle/VNU_123/60601
ISSN:	2588-1140
Appears in Collections:	Natural Sciences and Technology