Study of mitochondrial DNA point mutations at positions 3243, 8993 in hereditary ataxia
- VernacularTitle:遗传性共济失调线粒体DNA3243、8993点突变的研究
- Author:
Jing WANG
;
Huihua LIU
;
Shuguang LUO
- Publication Type:Journal Article
- Keywords:
hereditary ataxia;
mitochondrial DNA;
point mutation
- From:
Journal of Clinical Neurology
1988;0(02):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the possible relationship between mitochondrial DNA point mutations and hereditary ataxia (HA). Methods Polymerase chain reaction (PCR), restriction fragment length polymophism (RFLP) were performed to search A3243G, T8993G or T8993C point mutations in the amplified mitochondrial DNA of extract human perpheral white blood cells of 26 patients with HA and 35 normal controls. Results No point mutations of mitochondrial DNA A3243G, T8993G or T8993C were found in HA group and control group.Conclusion mitochondrial DNA A3243G, T8993G and T8993C mutations are not likely to be genetic factors of hereditary ataxia.
