Penetrance of Leber hereditary optic neuropathy individuals with mitochondrial DNA 11778 mutation in the Shanxi area.
- Author:
Mei-ling ZHENG
1
;
Gui-lin ZHANG
;
Ai-ling HUA
;
Yue-lian ZHANG
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Child; DNA, Mitochondrial; genetics; Female; Humans; Male; Middle Aged; Mutation; Optic Atrophy, Hereditary, Leber; genetics; Penetrance
- From: Chinese Journal of Medical Genetics 2004;21(2):166-167
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze the penetrance of Leber hereditary optic neuropathy (LHON) individuals with mitochondrial DNA 11778 mutation in Shanxi.
METHODSAllele-specific PCR was used to detect mtDNA 11778 mutation in LHON patients and their families.
RESULTSIn 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.
CONCLUSIONThe penetrance of LHON individuals with mtDNA 11778 mutation in the Shanxi area is 55.6%.
