《医学遗传学 Medical Genetics》课程电子教案（PPT课件讲稿，英文版）13 线粒体疾病 mitochondrial diseases

Medical Genetics 3. LHON LHON Leber's, Hereditary; Optic Neuropathy

Medical Genetics 3. LHON LHON = Leber's; Hereditary; Optic; Neuropathy

Medical Genetics Genetic-Clinical correlations Maternal inheritance o Recurrence risks, brother 30/: sister 8% Nephew 46%, Niece 10%, Male cousin 31: Female cousin 6% 40% of patients with commonest mutation (G11778A) have negative family history Large families with maternal inheritance G11778& T14484C mutations

Medical Genetics Genetic-Clinical correlations: Maternal Inheritance • Recurrence risks: Brother 30%; Sister 8%; Nephew 46%; Niece 10%; Male cousin 31%; Female cousin 6% • 40% of patients with commonest mutation (G11778A) have negative family history • Large families with maternal inheritance: G11778 & T14484C mutations