[Analysis of mitochondrial gene mutations in pedigrees of Leber's hereditary optic neuropathy]

The purpose of the study is to investigate the frequency of common pathogenic primary mitochondrial DNA mutations in pedigrees of Leber's hereditary optic neuropathy (LHON). Mutations were determined by polymerase chain reaction (PCR), single-stranded conformational polymorphism (SSCP) and DNA sequencing. Twenty-two patients with suspicion of LHON and twenty-one their maternal relatives underwent molecular genetic evaluation. Seventy-one normal individuals underwent molecular genetic evaluation as control at the same time. Members from 13 families with suspicion of LHON,11 families had nucleotide position nt11778 G-->A mutations. Another 2 families had nt14484 T-->C mutations. It is concluded that the point mutations at nucleotides 11778 and 14484 are primary LHON mutations,but the point mutation of nt14484 is rare in Chinese.