Rare primary mt-DNA mutations in Leber hereditary optic nem'opathy
- VernacularTitle:Leber遗传性视神经病少见mt-DNA原发突变位点研究
- Author:
Shi-Lei CUI
;
Ling YANG
;
Wei WANG
;
Jun SHANG
;
Xiao-Jun ZHANG
;
- Publication Type:Journal Article
- Keywords:
Leber hereditary optic neuropathy;
mitochondrial DNA;
point mutation
- From:Ophthalmology in China
2006;0(06):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the rare primary mt-DNA mutation in LHON patients in China.Design Clinical study.Partici- pants Clinically diagnosed LHON patients whose common primary mt-DNA mutations were negative and normal persons.Methods Polymerase chain reaction(PCR)and DNA sequencing were used to detect the mutations of G11778A,G3460A and T14484C in mt-DNA of clinically diagnosed LHON patients.Fragments of mt-DNA 3962～4356 and 11320～11789 were PCR amplified and se- quenced if all the three mutations above were negative and also in the control group.The sequence results were analyzed by the BLAST service provided by NCBI and compared with the 2001 Revised Cambridge Reference Sequence for the mt-DNA mutations C4171A and G11696A.Main Outcome Measures The sequence results of mt-DNA.Results There were totally 56 eases of clinical diagnosed LHON patients included.The mutation of G11778A was found in 36 cases,G3460A was found in 3 cases,and T14484C was found in 5 eases.Twelve cases of clinical diagnosed LHON patients didn't harbor any of the three common primary mutations,one case harbored the mutation C4171A,the mutation of G11696A was not found.There were totally 25 cases in the control group,the mutations of G11696A and C4171A were not found.Conclusion C4171A may be rare primary mt-DNA mutation in LHON patients in China.(Oph- thalmol CHN,2007,16:382-385)
