March 2012
Volume 53, Issue 14
Free
ARVO Annual Meeting Abstract  |   March 2012
Mutation Frequency of Mitochondrial ND1 Gene Associated with Leber’s Hereditary Optic Neuropathy in Chinese Population
Author Affiliations & Notes
  • fuxin zhao
    school of ophthalmology & optometry, wenzhou medical college, wenzhou, China
  • Xiangtian zhou
    school of ophthalmology & optometry, wenzhou medical college, wenzhou, China
  • Juanjuan zhang
    school of ophthalmology & optometry, wenzhou medical college, wenzhou, China
  • jia qu
    school of ophthalmology & optometry, wenzhou medical college, wenzhou, China
  • minxin guan
    school of ophthalmology & optometry, wenzhou medical college, wenzhou, China
  • Footnotes
    Commercial Relationships  fuxin zhao, None; Xiangtian zhou, None; Juanjuan zhang, None; jia qu, None; minxin guan, None
  • Footnotes
    Support  Zhejiang Provincial Natural Science FoundationY2090649 and Wenzhou Municipal Science and Technology Bureau Foundation Y20090273
Investigative Ophthalmology & Visual Science March 2012, Vol.53, 1554. doi:
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      fuxin zhao, Xiangtian zhou, Juanjuan zhang, jia qu, minxin guan; Mutation Frequency of Mitochondrial ND1 Gene Associated with Leber’s Hereditary Optic Neuropathy in Chinese Population. Invest. Ophthalmol. Vis. Sci. 2012;53(14):1554.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: : To study mutation frequency of mitochondrial ND1 gene associated with Leber’s hereditary optic neuropathy in Chinese population.

Methods: : Genomic DNA was extracted from peripheral blood leukocytes of all participants, PCR-amplification of mitochondrial ND1 gene, and sequencing, aligning with revised Cambridge Reference Sequence (rCRS), then screening mutation, and analyzing mutation frequency.

Results: : Mutational Analysis of mitochondrial ND1 gene in 984 cases revealed the presence of G3316A, T3394C, G3460A, C3497T, G3635A, G3733A, and T4216C, and 100 cases were found associated with the seven mutations, 29 cases were co-occurred with three primary mutation. Mutation frequency in cases was 2.57%, 2.23%, 1.45%, 3.80%, 0.67%, 0.11%, 0.34%, respectively. G3316A, T3394C, C3497T, and T4216C also had been detected in 134 controls; mutation frequency was 4.48%, 2.99%, 4.48%, 1.49%, respectively. Mutation frequency analysis of G3316A, T3394C, C3497T, and T4216C showed that there was not significant difference between cases and controls. G3376A, G3496T, G3700A, A4136G, T4160C, and C4171A was absent in cases and controls.

Conclusions: : Mitochondrial ND1 gene associated with Leber’s hereditary optic neuropathy was mutational hotspot in Chinese population, 11.19% (100/894) LHON was caused by ND1 gene mutation. G3635A,G3733A may be rare pathological mutation in Chinese population. However, G3316A, T3394C, C3497T, and T4216C were themselves insufficient to produce the clinical phenotype, and may play a role in the synergic expression for penetrance and phenotypic manifestation in Leber’s hereditary optic neuropathy.

Keywords: genetics • gene screening • neuro-ophthalmology: optic nerve 
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