Exclusive Homoplasmic 11778 Mutation in Mitochondrial DNA of Chinese Patients With Leber's Hereditary Optic Neuropathy

1999 ◽  
Vol 43 (3) ◽  
pp. 196-200 ◽  
Author(s):  
M Yen
Keyword(s):  
Mitochondrial Dna ◽  
Optic Neuropathy ◽  
Chinese Patients ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Hereditary Optic Neuropathy

scholarly journals A Simple Oligonucleotide Biochip Capable of Rapidly Detecting Known Mitochondrial DNA Mutations in Chinese Patients with Leber’S Hereditary Optic Neuropathy (LHON)

2011 ◽  
Vol 30 (4) ◽  
pp. 181-190 ◽  
Author(s):  
Wei-Dong Du ◽  
Gang Chen ◽  
Hui-Min Cao ◽  
Qing-Hui Jin ◽  
Rong-Feng Liao ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Optic Neuropathy ◽  
Transmitted Disease ◽  
Chinese Patients ◽  
Base Substitution ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Mtdna Mutations ◽  
Hereditary Optic Neuropathy ◽  
Oligonucleotide Biochip

Leber's hereditary optic neuropathy (LHON) is a maternally transmitted disease. Clinically, no efficient assay protocols have been available. In this study, we aimed to develop an oligonucleotide biochip specialized for detection of known base substitution mutations in mitochondrial DNA causing LHON and to investigate frequencies of LHON relevant variants in Anhui region of China. Thirty-two pairs of oligonucleotide probes matched with the mutations potentially linked to LHON were covalently immobilized. Cy5-lablled targets were amplified from blood DNA samples by a multiplex PCR method. Two kinds of primary mutations 11778 G > A and 14484 T > C from six confirmed LHON patients were interrogated to validate this biochip format. Further, fourteen Chinese LHON pedigrees and twenty-five unrelated healthy individuals were investigated by the LHON biochip, direct sequencing and pyrosequencing, respectively. The biochip was found to be able efficiently to discriminate homoplasmic and heteroplasmic mtDNA mutations in LHON. Biochip analysis revealed that twelve of eighteen LHON symptomatic cases from the 14 Chinese pedigree harbored the mutations either 11778G > A, 14484T > C or 3460G > A, respectively, accounting for 66.7%. The mutation 11778G > A in these patients was homoplasmic and prevalent (55.5%, 10 of 18 cases). The mutations 3460G > A and 3394T > C were found to co-exist in one LHON case. The mutation 13708G > A appeared in one LHON pedigree. Smaller amount of sampling and reaction volume, easier target preparation, fast and high-throughput were the main advantages of the biochip over direct DNA sequencing and pyrosequencing. Our findings suggested that primary mutations of 11778G > A, 14484T > C or 3460G > A are main variants of mtDNA gene leading to LHON in China. The biochip would easily be implemented in clinical diagnosis.

Spectrum of the mitochondrial DNA mutations of Leber's hereditary optic neuropathy in Koreans

2003 ◽  
Vol 250 (3) ◽  
pp. 278-281 ◽  
Author(s):  
Ji Yeon Kim ◽  
Jeong-Min Hwang ◽  
Bong-Leen Chang ◽  
Sung Sup Park
Keyword(s):  
Mitochondrial Dna ◽  
Optic Neuropathy ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Mitochondrial Dna Mutations ◽  
Dna Mutations ◽  
Hereditary Optic Neuropathy

Leber's hereditary optic neuropathy mitochondrial DNA mutations in normal-tension glaucoma

2001 ◽  
Vol 239 (6) ◽  
pp. 437-440 ◽  
Author(s):  
Danielle Opial ◽  
Matthias Boehnke ◽  
Saba Tadesse ◽  
Andrea Lietz-Partzsch ◽  
Josef Flammer ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Optic Neuropathy ◽  
Normal Tension Glaucoma ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Mitochondrial Dna Mutations ◽  
Dna Mutations ◽  
Hereditary Optic Neuropathy

Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy

1990 ◽  
Vol 170 (3) ◽  
pp. 994-997 ◽  
Author(s):  
P.A. Bolhuis ◽  
E.M. Bleeker-Wagemakers ◽  
N.J. Ponne ◽  
M.J. Van Schooneveld ◽  
A. Westerveld ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Optic Neuropathy ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Human Mitochondrial Dna ◽  
Rapid Shift ◽  
Hereditary Optic Neuropathy

Mitochondrial DNA Mutations with Leber's Hereditary Optic Neuropathy in Japanese Patients with Open-Angle Glaucoma

2006 ◽  
Vol 50 (2) ◽  
pp. 128-134 ◽  
Author(s):  
Yoko Inagaki ◽  
Yukihiko Mashima ◽  
Nobuo Fuse ◽  
Yuichiro Ohtake ◽  
Takuro Fujimaki ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Optic Neuropathy ◽  
Open Angle Glaucoma ◽  
Japanese Patients ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Open Angle ◽  
Leber's Hereditary Optic Neuropathy ◽  
Mitochondrial Dna Mutations ◽  
Dna Mutations ◽  
Hereditary Optic Neuropathy
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