[Penetrance of Leber hereditary optic neuropathy individuals with mitochondrial DNA 11778 mutation in the Shanxi area].
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%.
Zheng
Mei-ling
ML
Department of Genetics, the First Hospital of Shanxi Medical University, Taiyuan, Shanxi, 030001 PR China. ZMLbest.student@sina.com
Zhang
Gui-lin
GL
Hua
Ai-ling
AL
Zhang
Yue-lian
YL
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
D004272:DNA, Mitochondrial