复旦大学：《医学遗传学 Medical Genetics》课程教学资源（PPT课件讲稿）01 医学遗传学绪论 introduction to medical Genetics

Medical Genetics 01医学遗传学绪论 intuoduction ta edical emetic

Medical Genetics 01 医学遗传学绪论 introduction to medical Genetics

Medical Genetics Arrangement Introduction o Medical genetics Genetic disease

Medical Genetics • Arrangement • Introduction • Medical Genetics • Genetic disease

Medical Genetics Arrangement Teacher Liu Wen phd associate prof (liuwen@shmu.edu.cn) Liu Xiaoyu phd assistant Prof (liubo 163. com) Alexander endler phD

Medical Genetics Arrangement Teacher: Liu Wen PhD associate prof (liuwen@shmu.edu.cn) Liu Xiaoyu PhD assistant Prof (liubio@163.com) Alexander Endler PhD

Medical Genetics 1. 5 credits Lecture: 2 classes/week(9 weeks) Lab: 4 classes/week(4 weeks)

Medical Genetics • 1.5 credits • Lecture:2 classes/week (9 weeks) • Lab:4 classes/week (4 weeks)

Medical Genetics Lectures Day Course Content Teacher l1.11 Thu 3-4 Medical Genetics&Genetic disease Liu wen 11 1.18 Thu 3-4 Single Gene Disorder Alexander endler 11.25 Thu 3-4 Polygene Disorder Liu wen Thu 3-4 Chromosomal Disease Alexander Endler 14 12.9 Thu 3-4 Mitochondrial Disease Liu Wen 15 12.16 Thu 3-4 Genetics and Cancer Liu wen Birth de fect 12.23 Thu3-4 Liu wen 12.30 Thu 3-4 Students presentation Liu wen 18 1.7 Thu3-4 Exam Liu wen Classroom: 1402

Medical Genetics Week Date Day Course Content Teacher 10 11.11 Thu 3-4 Medical Genetics & Genetic disease Liu Wen 11 11.18 Thu 3-4 Single Gene Disorder Alexander Endler 12 11.25 Thu 3-4 Polygene Disorder Liu Wen 13 12.2 Thu 3-4 Chromosomal Disease Alexander Endler 14 12.9 Thu 3-4 Mitochondrial Disease Liu Wen 15 12.16 Thu 3-4 Genetics and Cancer Liu Wen 16 12.23 Thu 3-4 Birth defect Liu Wen 17 12.30 Thu 3-4 Students presentation Liu Wen 18 1.7 Thu 3-4 Exam Liu Wen Classroom：1402 Lectures

Medical Genetics Lab training Week Date Day Course Content Teacher 11 11.19 Fri 5-8 Preparation of chromosome samples Liu Xiaoyu 11.26 Fri 5-8 Gbanding samples of chromosome diseases Liu Xiaoyu 14 12.10 Fri 5-8 Extraction of Genomic DNA Liu Xiaoyu 15 12.17 Fri 5-8 Detection of gene mutation by PCR Liu Xiaoyu Lab:13-214

Medical Genetics Week Date Day Course Content Teacher 11 11.19 Fri 5-8 Preparation of chromosome samples Liu Xiaoyu 12 11.26 Fri 5-8 G banding & samples of chromosome diseases Liu Xiaoyu 14 12.10 Fri 5-8 Extraction of Genomic DNA Liu Xiaoyu 15 12.17 Fri 5-8 Detection of gene mutation by PCR Liu Xiaoyu Lab：13-214 Lab training

Medical Genetics o Text book ● Reference Thompson Thompson Genetics in Medicine 7th Principles of Medical Genetics (Williams Wikins)

Medical Genetics • Text book • Reference Thompson & Thompson Genetics in Medicine, 7th Principles of Medical Genetics (Williams & Wikins)

Medical Genetics Exam Exam 40% Presentation 309/ Lab report 20%o Homework 10%

Medical Genetics Exam: Exam 40% Presentation 30% Lab report 20% Homework 10％

Medical Genetics Introduction First Story 46,XY karyotype

Medical Genetics Introduction 46,XY karyotype

Medical Genetics 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

Medical Genetics 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