[Analysis on the effect of secondary mutations on Leber's hereditary optic neuropathy].
OBJECTIVE
To investigate the effect of secondary mutations on Leber's hereditary optic neuropathy (LHON).


METHODS
Three primary and 24 secondary mutations were identified in 4 Chinese families which included male offspring.


RESULTS
All 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.


CONCLUSIONS
Male 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.
Wang
Ying
Y
Department of Ophthalmology, Eye Hospital, Academy of Chinese Medical Science, Beijing, 100040 P. R. China. wangyingtcm@yahoo.com.cn
Tong
Yi
Y
Hu
Shi-xing
SX
Wang
Jian-yong
JY
Shao
Jun-bin
JB
Zhang
Hong-xing
HX
D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D015418:Optic Atrophies, Hereditary / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D055815:Young Adult
D004272:DNA, Mitochondrial