医学遗传学绪论.ppt

01　医学遗传学绪论introduction to medical Genetics Arrangement Introduction Medical Genetics Genetic disease Arrangement Teacher: Liu Wen PhD associate prof (liuwen@) Liu Xiaoyu PhD assistant Prof (liubio@163.com) Alexander?Endler? PhD 1.5 credits Lecture:2 classes/week (9 weeks) Lab:4 classes/week (4 weeks) Text book Reference Thompson Thompson Genetics in Medicine, 7th Principles of Medical Genetics (Williams Wikins) Exam: Exam 40% Presentation 30% Lab report 20% Homework 10％ Introduction Androgen insensitivity syndrome, AIS Mechanism Caused by mutations of the gene encoding the androgen receptor. symptoms A person with complete androgen insensitivity syndrome (CAIS) has a female external appearance, and suppressed menstruation. androgen insensitivity syndrome， AIS（雄激素不敏感综合征） XR Introduction Introduction-Disease and Genetics A. Disease caused by (or related to) environmental stress. Bird Flu Introduction-Disease and Genetics B. Disease caused by (or related to) genetic factors. Introduction-Disease and Genetics Duchenne muscular dystrophy caused by a gene mutation Introduction-Disease and Genetics C. diseases caused by the combined action of gene and environment. 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 Wha