[Aberrance analysis of mitochondrial DNA in a family with hereditary ataxia in Guangxi province].
OBJECTIVE
To investigate the point mutations of mitochondrial DNA in the families with hereditary ataxia.


METHODS
Polymerase chain reaction and single strand conformation polymorphism (SSCP) were used to analyze the mitochondrial DNA extracted from human peripheral white blood cells from the families with HA and 35 normal controls. Sequencing was performed to search the point mutations in mitochondrial DNA of those subjects whose results of SSCP were abnormal.


RESULTS
A mitochondrial DNA point mutation 11893(A>G) was identified in 2 patients and 1 family member without symptoms.


CONCLUSIONS
A new point mutation 11893(A>G) of detected mitochondrial DNA may be relative to hereditary ataxia.
Wang
Jing
J
Department of Neurology, First Affiliated Hospital, Guangxi Medical University, Nannin, Guangxi, 530021 PR China. wangjin66@163.com
Liu
Hui-hua
HH
Luo
Shu-guang
SG
D000368:Aged; D001483:Base Sequence; D002681:China; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D013132:Spinocerebellar Degenerations / Q000235:genetics*
D004272:DNA, Mitochondrial