title: [Penetrance of Leber hereditary optic neuropathy individuals with mitochondrial DNA 11778 mutation in the Shanxi area].
abstract: OBJECTIVE
  To analyze the penetrance of Leber hereditary optic neuropathy (LHON) individuals with mitochondrial DNA 11778 mutation in Shanxi.
  
  
  METHODS
  Allele-specific PCR was used to detect mtDNA 11778 mutation in LHON patients and their families.
  
  
  RESULTS
  In 17 families of the 30 families that harbored mtDNA 11778 mutation, only the probands were LHON patients. In the other 13 families, besides the probands, 72 maternal relatives carried mtDNA 11778 mutation.
  
  
  CONCLUSIONS
  The penetrance of LHON individuals with mtDNA 11778 mutation in the Shanxi area is 55.6%.
authors.affiliation: Department of Genetics, the First Hospital of Shanxi Medical University, Taiyuan, Shanxi, 030001 PR China. ZMLbest.student@sina.com
authors.forename: Mei-ling
authors.initials: ML
authors.lastname: Zheng
authors.forename: Gui-lin
authors.initials: GL
authors.lastname: Zhang
authors.forename: Ai-ling
authors.initials: AL
authors.lastname: Hua
authors.forename: Yue-lian
authors.initials: YL
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics*; D019683:Penetrance
chemical_list: D004272:DNA, Mitochondrial