【PPT讲义】杨正林-眼睛单基因疾病的早期诊断与遗传咨询.pdf

眼睛单基因疾病的早期诊断与遗传咨询 杨正林 电子科技大学医学院 四川省医学科院 /四川省人民医院 中国科学院四川转化医学研究医院 1. 遗传物质的存在 2. 遗传与分离规律 3. 显性遗传和隐性 遗传规律 /wiki/ X-连锁遗传规律 /wiki/ 核酸（nuclein （now nucleic acids ））的发现 /wiki/ 核苷酸碱基（A T G C U) 的发现 /wiki/ 遗传物质DNA与基因和染色体的联系（1944） DNA结构 DNA测序 Human Genome Project • Completed in 2003, the Human Genome Project (HGP) was a 13-year project coordinated by the U.S. Department of Energy and the National Institutes of Health. During the early years of the HGP, the Wellcome Trust (U.K.) became a major partner; additional contributions came from Japan, France, Germany, China, and others. • identify all the approximately 20,000-25,000 genes in human DNA, • determine the sequences of the 3 billion chemical base pairs that make up human DNA, • store this information in databases, • improve tools for data analysis, • transfer related technologies to the private sector, and • address the ethical, legal, and social issues (ELSI) that may arise from the project. • Though the HGP is finished, analyses of the data will continue for many years. 测序花费直线下降 单基因疾病 （polygenic diseases) 多基因疾病(polygenic diseases) 视觉形成 不可逆的 基因突变 化学信号 视力下降甚至失明 光信号 - 3 - /education/materials/HyperVis/vision/eyebrain.ht m RPE 眼科临床检查 病人主述，症状，体征，视力，眼底（镜，照相），血管造影，眼压，OCT，房角 ，视野，电生理（ERG)，角膜，眼轴，病理，房水，CT，MRI，实验室检查（血常 规，生化，免疫，微生物等）… 基因诊断…… Ptosis(眼睑下垂） Most cases are in syndromes A number sign (#) is used with this entry because the