[DNA diagnosis of Leber's hereditary optic neuropathy]

The point mutation at nt11778 in mitochondrial DNA is highly associated with Leber's hereditary optic neuropathy and eliminates a restriction enzyme SfaNI site in American blacks and Caucasians. DNA diagnosis was applied to a male Japanese patient with this disorder and his mother as a carrier. The mitochondrial DNA fragments (255bp) including this mutation were amplified by polymerase chain reaction. SfaNI digested the DNA fragments of normal Japanese subjects, but did not digest those of the patient or the carrier, The mutation within the SfaNI site is also associated with Japanese suffering from this disorder.