[Rapid genetic screening of Leber's hereditary optic neuropathy with mtDNA G11778A mutation by AS-PCR with whole blood].
OBJECTIVE
Rapid Genetic Screening of Leber's hereditary optic neuropathy (LHON) with mtDNA G11778A mutation by allele-specific polymerase chain reaction (AS-PCR) with whole blood.


METHODS
Whole blood with anticoagulant was used as a template of AS-PCR for the analysis of LHON with mtDNA G11778A point mutation. The amplified DNA fragment was directly observed by electrophoretogram with ethidium bromide stained.


RESULTS
The accuracy was 100% by using this method in 24 blood samples tested, and the specific of PCR of which used whole blood as template was better than one of the purified mtDNA. The reliability of the method for screening of LHON with mtDNA G11778A mutation was checked by double-blind test in 22 blood samples.


CONCLUSIONS
This method does not need purified DNA from blood and only required one step of PCR. Thus, it is very simple, rapid and accurate for the clinical genetic screening of LHON with mtDNA G11778A point mutation.
Yang
Ju-hua
JH
The First Affiliated Hospital, Fujian Medical University, Fuzhou 350004, China. julian_yang@126.com
Tong
Yi
Y
Li
Bao-hua
BH
Chen
Yi-kai
YK
D004272:DNA, Mitochondrial / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D029242:Optic Atrophy, Hereditary, Leber / Q000097:blood / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods
D004272:DNA, Mitochondrial