10第十章核外遗传案例介绍.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,表现为急性的视力减退,眼底早期有视乳头轻度充血,边缘不清,此后遗留视乳头颞侧苍白. ----Mutation in the ND4 gene whose product is one component of the NADH 帕金森氏病(Parkinson) 老年痴呆(Alzbeimer) Keams-Sayre Syndrome KSS综合征 同卵双生子线粒体遗传 Mitochondrial inheritance in identical twins ~2000 mtDNAs in an egg cell. The mutant mitochondria in twins may end up in different cells. 线粒体突变和年龄密切相关 Mt DNA accumulate much more mutations than nuclear DNA (10 times in vertebrate脊椎动物). ？ The mutations result in an age-related decline in oxidative phosphorylation（氧化磷酸化）， which accounts for some symptomes of aging. 假说证据： A common 5Kb deletion in mtDNA is absent in normal heart muscle cells before the age of 40, but afterward this deletion is present with increasing frequency. The same deletion is found at a low frequency in normal brain tissue before age 75 but is found in 11% to 12% of mtDNAs in the basal ganglia(基底神经) by age 80. Alzheimer’s disease (AD) and mutation in cytochrome c oxidase genes（细胞色素C氧化酶基因）. …… * 5. 线粒体与遗传分析 Characteristics of mtDNA 母系遗传（Maternal inheritance） 较少重组（A lack of recombination） 存在331bp的高变异非编码区（A high variable non-coding region of 331bp）---个体不同 单细胞中多拷贝（A large number of mtDNAs per cell）---化石样品分析 线粒体遗传与亲缘关系鉴定. 线粒体遗传与人类起源与进化 * 细胞器遗传小结： ---Summary of Organelle heredity 非孟德尔遗传（Non-Mendelian inheritance） The segregation ratio of parental alleles is 4∶0 ra