Penetrance of Leber hereditary optic neuropathy individuals with mitochondrial DNA 11778 mutation in the Shanxi area / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze the penetrance of Leber hereditary optic neuropathy (LHON) individuals with mitochondrial DNA 11778 mutation in Shanxi.</p><p><b>METHODS</b>Allele-specific PCR was used to detect mtDNA 11778 mutation in LHON patients and their families.</p><p><b>RESULTS</b>In 17 families of the 30 families that harbored mtDNA 11778 mutation, only the probands were LHON patients. In the other 13 families, besides the probands, 72 maternal relatives carried mtDNA 11778 mutation.</p><p><b>CONCLUSION</b>The penetrance of LHON individuals with mtDNA 11778 mutation in the Shanxi area is 55.6%.</p>