10第十章核外遗传重点.pptVIP

Trp：色氨酸，Arg：精氨酸，Met：甲硫氨酸，lle：异亮氨酸 * 4. 线粒体突变引起的人类疾病 Mutations in mtDNA cause human diseases 线粒体疾病判断标准: ◇母系遗传（Maternal inheritance） ◇能量功能缺陷（Deficiency in bioenergetic function） ◇Mutation of mitochondrial gene Characteristic pedigree of mitochondrial disease Disease * 肌阵挛性癫痫与破损性红肌纤维病 Myoclonic epilepsy and ragged red fiber disease，MERRF 不自主抽动，肌无力，听力问题,心脏问题，肾脏问题及渐进式智力衰退等。 Mutation in tRNALys * The proportion of mutant mitochondria determines the severity of the MERRF phenotype and the tissue that are affected leber氏遗传性视神经病 Leber’s hereditary optic neuropathy，LHON LHON是青少年早期发病的由眼神经炎引起的视神经萎缩