April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
Spectrum and Frequencies of mtDNA Primary Mutations in 1788 Chinese Families Suspected with Leber Hereditary Optic Neuropathy
Author Affiliations & Notes
  • Qingjiong Zhang
    State Key Lab of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, China
  • Xiaoyun Jia
    State Key Lab of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, China
  • Shiqiang Li
    State Key Lab of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, China
  • Xueshan Xiao
    State Key Lab of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, China
  • Xiangming Guo
    State Key Lab of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, China
  • Footnotes
    Commercial Relationships  Qingjiong Zhang, None; Xiaoyun Jia, None; Shiqiang Li, None; Xueshan Xiao, None; Xiangming Guo, None
  • Footnotes
    Support  NSFC 30725044 and Guangdong 2009B091300150
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 4614. doi:
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      Qingjiong Zhang, Xiaoyun Jia, Shiqiang Li, Xueshan Xiao, Xiangming Guo; Spectrum and Frequencies of mtDNA Primary Mutations in 1788 Chinese Families Suspected with Leber Hereditary Optic Neuropathy. Invest. Ophthalmol. Vis. Sci. 2011;52(14):4614.

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Abstract

Purpose: : Leber hereditary optic neuropathy (LHON) is a common cause of acute vision loss in young adults and is caused by mtDNA primary mutations. The spectrum and frequencies of mtDNA primary mutations were analyzed in Chinese patients suspected to have LHON.

Methods: : The three primary mutations have been routinely analyzed for probands suspected with LHON in our lab since 1996, by using MSP-PCR, Heteroduplex-SSCP, PCR-RFLP, and/or cycle sequencing. Other rare mutations were detected by cycle sequencing.

Results: : The three common mutations (G11779A, T14484C, and G3460A) were detected in 685 of 1788 probands suspected with LHON but the frequency of each mutation is different from those in Caucasian. In addition, G3635A is not uncommon in Chinese patients. Other rare primary mutations were also detected in patients.

Conclusions: : Our result demonstrated a firm basis for the spectrum and frequencies of LHON-related mtDNA mutations in Chinese. It also provided additional evidence to support the pathogenic role of those rare mutations. (qingjiongzhang@yahoo.com)

Keywords: neuro-ophthalmology: diagnosis • mitochondria • mutations 
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