【基础医学】01医学遗传学绪论ENG V.ppt

01　医学遗传学绪论introduction to medical Genetics 推荐网址 推荐课程：医学遗传学（国家级精品课程） 课程负责人：左伋 承担单位：复旦大学 网址： /jpkc Introduction What is Medical Genetics? Genetic disease Role of Medical Genetics in Medical Education. Introduction Introduction Introduction Introduction Disease caused by (or related to) environmental stress. Bird Flu (upper) SARS (right) Introduction Disease caused by (or related to) genetic factors. Introduction Duchenne muscular dystrophy caused by a gene mutation Introduction diseases caused by the combined action of gene and environment. Introduction Genetic Disorders : disorders caused wholly or partly by genetic factors. What is Medical Genetics? human genetics What is Medical Genetics? human genetics: the science of variation and heredity in human beings. What is Medical Genetics? Medical Genetics : Medical genetics deals with human genetic variation of medical significance. Major recognized areas of specialization are the study of chromosomes, and the structure and function of individual genes. What is Medical Genetics? Medical Genetics Wilson’s disease What is Medical Genetics? Clinical Genetics the application to diagnosis and patient care What is Medical Genetics? What is Medical Genetics? What is Medical Genetics? What is Medical Genetics? Genetic disease A. What is genetic disorder? A genetic disorder is a disease that is caused by an abnormality in an individual’s DNA. Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes. Genetic disease B. Characteristics of genetic disorders 1. population distribution 2. mode of inheritance 3. congenital 4. familial 5. infectious Genetic disease B. Characteristics of genetic disorders 1.population distribution 2. mod