Aberrance analysis of mitochondrial DNA in a family with hereditary ataxia in Guangxi province.
- Author:
Jing WANG
1
;
Hui-hua LIU
;
Shu-guang LUO
Author Information
- Publication Type:Journal Article
- MeSH: Aged; Base Sequence; China; DNA Mutational Analysis; DNA, Mitochondrial; chemistry; genetics; Family Health; Female; Humans; Male; Middle Aged; Pedigree; Point Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Spinocerebellar Degenerations; genetics
- From: Chinese Journal of Medical Genetics 2006;23(3):323-325
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the point mutations of mitochondrial DNA in the families with hereditary ataxia.
METHODSPolymerase 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.
RESULTSA mitochondrial DNA point mutation 11893(A>G) was identified in 2 patients and 1 family member without symptoms.
CONCLUSIONA new point mutation 11893(A>G) of detected mitochondrial DNA may be relative to hereditary ataxia.
