Study of mitochondrial DNA point mutations at positions 3243, 8993 in hereditary ataxia / 临床神经病学杂志

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.