Analysis on the effect of secondary mutations on Leber's hereditary optic neuropathy.
- Author:
Ying WANG
1
;
Yi TONG
;
Shi-xing HU
;
Jian-yong WANG
;
Jun-bin SHAO
;
Hong-xing ZHANG
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; DNA Mutational Analysis; DNA, Mitochondrial; chemistry; genetics; Female; Humans; Male; Mutation; Optic Atrophies, Hereditary; genetics; Pedigree; Polymerase Chain Reaction; Polymorphism, Genetic; Young Adult
- From: Chinese Journal of Medical Genetics 2007;24(4):397-400
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the effect of secondary mutations on Leber's hereditary optic neuropathy (LHON).
METHODSThree primary and 24 secondary mutations were identified in 4 Chinese families which included male offspring.
RESULTSAll of the four pedigrees carried classic LHON mutations at nucleotide (nt) 11778, and did not carry any point of 24 secondary mutations. Nevertheless many polymorphic points were found in the nearby fragments of these pedigrees, such as 5178, 5108, 3705, 3721, 13734, etc.
CONCLUSIONMale offspring sequences should be analyzed in pedigrees with LHON to avoid the influence of familial inheritance characteristic which mitochondrial DNA polymorphism carried. Existence of the "repair genes" may affect the development of LHON.
