模式生物与人类疾病.pdf

2011.10.24-25 ） 模式生物与人类疾病 王铸钢 上海交通大学医学院附属瑞金医院医学基因组学国家重点实验室 上海交通大学医学院医学遗传学学科 上海瑞金医院实验医学研究中心 上海南方模式生物研究中心 ―Genome Encyclopedia‖ of Human Genome size: 3,000,000,000 bp ―Life book‖ — composed of 4 letters (A、G、C、T) 5 letters/word ===== ~600,000,000 words 12 words/line ===== ~50,000,000 lines 70 lines/page ====== ~700,000 pages 1000 pages/volume====== ~700 volumes Human Variation and Heredity — we are all 99.9% the same, DNA-wise! differ at about 1 in every 1,200 to 1,500 pb, or letters Twins look the same as each other ! The Genome determines…… Life Cycle — mitosis and meiosis From DNA to Chromosome The genome is condensed and packaged into chromosomes Human Mitochondria DNA mtDNA: 16569 bp HC: 28 genes LC: 9 genes 13 proteins 22 tRNA 2 rRNA Copy number: 100-10,000/cell (100-1000/sperm, 100000-1000000/egg) Central Dogma of Genetics All medicine is genetics Mckusick VA. Medicine in future is molecular genetics Renato Dulbecco Dulbecco R., A turning point in cancer research: Sequencing the genome, Science, 1986, 231: 1055-56. OMIM Statistics for August 14, 2010 Number of Entries Type Autosomal X-linked Y-linked Mitochondrial Total Gene with known 12475 611 48 35 13169 sequence Gene with known sequence and 346 20 0 2 368 phenotype Phenotype description, 2576 227 4 28 28