Preliminary analysis of mitochondrial gene mutations of LHON pedigree with peculiar expressing
Hu Huimin, Chen Xianwen, Gao Zongliang,et al (Dept of Neurology, The First Affiliated Hospital of Anhui Medical University, Hefei 230022)
Objective To preliminarily analyze mitochondrial gene mutations of a five generation LHON ( Leber hereditary optic neuropathy) pedigree with peculiar expression. Methods LHON ′s pathologic mutations (such as 3 460 , 11 778 , 14 484 , 14 459 etc.), mtDNA(mitochondria DNA) 8 993 mutation accompanying with MILS ( maternally inherited Leigh′s syndrome) and mtDNA 13 513 mutation which was a frequent cause of MELAS ( mitochondrial myopathy, encephalopathy, lactiacidosis, stroke ) with Leigh-like syndrome were studied by PCR ( polymerase chain reaction ), SSCP ( single-stranded conformational polymorphism ) and DNA sequencing. Results The results of SSCP and sequencing were negative. Conclusion The family has a new LHON mutation. We may study the complete sequence of the mtDNA to get positive diagnosis of the family.
【CateGory Index】： R346