表观遗传变异相关疾病的遗传咨询可发生长期变异的疾病.pdf

表观遗传变异相关疾病的遗传咨询 遗 传 遗 相 传 关 疾 病 分 类 环 境 染色体疾病 多基因疾病 单基因疾病 线粒体疾病 表观遗传疾病 Environment and Diseases  More than 13 million deaths every year are due to environmental pollutants, and as much as 24% of diseases are estimated to be caused by environmental exposures that can be averted.  148 different environmental chemicals were found in the blood and urine from the US population, indicating the extent of our exposure to environmental chemicals. WHO, 2006 表观遗传学与基因调控 Epigenetics and Gene Regulation  Philosophie Zoologique  Heritability of Acquired Characteristics  Use and disuse theory  First to use the term Biology Jean Baptiste Lemarck ，1744~1829  On the Origin of Species  Natural selection, survival of the fittest  Common descent Charles Robert Darwin, 1809– 1882 An Introduction to Modern Genetics (1939)  Link development and genetics  Originator of epigenetics  The term “epigenetics” was used for as a way of “genotype” controlling “phenotype” during development. Waddington CH 1905-1975 Epigenetic Landscape  Griffith JS, Mahler HR. DNA ticketing theory of memory. Nature 1969; 223:580 -2.  DNA methylation (or demethylation) might have an important biological role.  Holliday R, Pugh JE. DNA modification mechanisms and gene activity during deve