Aberrance analysis of mitochondrial DNA in a family with hereditary ataxia in Guangxi province / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the point mutations of mitochondrial DNA in the families with hereditary ataxia.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>A mitochondrial DNA point mutation 11893(A>G) was identified in 2 patients and 1 family member without symptoms.</p><p><b>CONCLUSION</b>A new point mutation 11893(A>G) of detected mitochondrial DNA may be relative to hereditary ataxia.</p>