[Study on five point mutations in mitochondrial DNA in patients with Leber's hereditary optic neuropathy]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Dec;22(6):675-8.
[Article in Chinese]


Objective: To analyze the relationship between the primary mutation at np11778 and the secondary mutations at np9804, np13708, np13730, np15257 in three Chinese pedigrees with Leber's hereditary optic neuropathy (LHON) and to detect the effects of the mutations on LHON.

Methods: Thirty-seven maternal individuals from three LHON pedigrees and forty-seven normal controls were involved in this study. Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA sequencing were used to detect the mutations in mitochondrial DNA (mtDNA).

Results: All patients and their maternal relatives had the np11778 mtDNA primary mutation. None had the secondary mutations at np9804, np13708 and np13730 and np15257. DNA sequencing of the PCR fragment revealed six new point mutations at np13759, np13928, np13942, np15301, np15323 and np15326.

Conclusion: All three Chinese pedigrees with LHON had the mtDNA11778 primary mutation. The frequency of mutation at np13759 in Chinese patients with LHON is higher than that in normal Chinese controls. These findings indicate that np13759 is a new secondary mutation of LHON in Chinese.

MeSH terms

  • Adolescent
  • Adult
  • Asian People / genetics
  • Child
  • China
  • DNA Mutational Analysis
  • DNA, Mitochondrial / chemistry
  • DNA, Mitochondrial / genetics*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Male
  • Optic Atrophy, Hereditary, Leber / ethnology
  • Optic Atrophy, Hereditary, Leber / genetics*
  • Point Mutation*
  • Young Adult


  • DNA, Mitochondrial