Mitochondrial DNA mutation analysis in Leigh syndrome / 中华神经科杂志

ABSTRACT

Objective To investigate the characteristics of mitochondrial DNA mutations in Chinese patients with Leigh syndrome Methods Screening mtDNA T8993G,T8993C,T9176C,A8344G,A3243G point mutations and deletion in 12 patients with Leigh syndrome by PCR restriction analysis and Southern blotting Results Four patients were identified as harboring mtDNA point mutations1 with T8993G,1 with T8993C,and 2 with A8344G The proportion of mutant mtDNA was high,ranging from 87 2% to 97 8% T9176C,A3243G point mutations or large scale deletions were not detected Conclusion There is extensive genetic heterogeneity in LS;There may be some subtle differences in clinical presentation of LS patients depending on their etiology