Analysis of mitochondrial gene mutations in Chinese pedigrees of Leber's hereditary optic neuropathy.
OBJECTIVE
To investigate the frequency of common pathogenic primary mitochondrial DNA mutations in Leber's hereditary optic neuropathy (LHON) families.


METHODS
Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA sequencing were used to detect mitochondrial DNA mutations. Sixty-six Chinese examiners from 15 families, including 22 visual affected and their 44 unaffected maternal relatives, underwent molecular genetic evaluation. Eleven normal individuals underwent evaluation as control.


RESULTS
Of the 15 families with suspicion of LHON, 13 had nucleotide position (nt) G11778A mutations, 2 had nt T14484C mutations. All examiners had nt G11719A mutations.


CONCLUSIONS
The mutations at nucleotides 11778 and 14484 are primary LHON mutations. Molecular genetic findings suggest that the silent mutation at nt G11719A may be a common genetic polymorphism in Chinese.
Lin
Ling
L
Research Center of Molecular Medicine, Fujian Medical University, Fuzhou 350004, China. linzz@public.fz.fj.cn
Chen
Yikai
Y
Tong
Yi
Y
Zheng
Zhihong
Z
Lin
Jianyin
J
D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002681:China; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D029242:Optic Atrophy, Hereditary, Leber / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
D004272:DNA, Mitochondrial