1
课程详述
COURSE SPECIFICATION
以下课程信息可能根据实际授课需要或在课程检讨之后产生变动。如对课程有任何疑问，请
联系授课教师。
7KHFRXUVHLQIRUPDWLRQDVIROORZVPD\EHVXEMHFWWRFKDQJHHLWKHUGXULQJWKHVHVVLRQEHFDXVHRIXQIRUHVHHQ
FLUFXPVWDQFHVRUIROORZLQJUHYLHZRIWKHFRXUVHDWWKHHQGRIWKHVHVVLRQ4XHULHVDERXWWKHFRXUVHVKRXOGEH
GLUHFWHGWRWKHFRXUVHLQVWUXFWRU
1.
课程名称 Course Title
医学遗传学 Medical Genetics
2.
授课院系
Originating Department
医学院 School of Medicine
3.
课程编号
Course Code
MED404
4.
课程学分 Credit Value
3
5.
课程类别
Course Type
6.
授课学期
Semester
秋季 / Fall
7.
授课语言
Teaching Language
中英双语 English & Chinese
8.
授课教师、所属学系、联系方
式（如属团队授课，请列明其
他授课教师）
Instructor(s), Affiliation&
Contact
（For team teaching, please list
all instructors）
董金堂，教授，南方科技大学医学院
dongjt@ sustech.edu.cn
0755-88018032
DONG Jintang, Professor, School of Medicine, Southern University of Science and
Technology
Email: dongjt@sustech.edu.cn
0755-88018032
9.
实验员/助教、所属学系、联系
方式
Tutor/TA(s), Contact
无 NA /
10.
选课人数限额(可不填)
Maximum Enrolment
（Optional）
专业基础课 Major Foundational Courses
2
11.
授课方式
Delivery Method
讲授
Lectures
实验/实习
Lab/Practical
其它(请具体注明)
Other（Please specify）
总学时
Total
学时数
Credit Hours
48
0
0
48
12.
先修课程、其它学习要求
Pre-requisites or Other
Academic Requirements
13.
后续课程、其它学习规划
Courses for which this course
is a pre-requisite
无 None
14.
其它要求修读本课程的学系
Cross-listing Dept.
无 None
教学大纲及教学日历 SYLLABUS
15.
教学目标 Course Objectives
医学遗传学是将遗传学理论应用于医学实践，研究人类疾病与遗传关系的一门学科。本课程的教学目标为：
1. 培养学生掌握遗传学的基本概念和原理、掌握常见遗传疾病的遗传学机制，提高学生探讨医学遗传问题的兴趣。
2. 适当培养学生能结合医学实际，对临床上常见遗传病的诊断、检验、预防、治疗及遗传咨询有初步的分析判断能力。
3. 介绍医学遗传学科的新成就、新技术，为进行有关的研究工作和进一步学习医学知识打下基础。
Medical genetics is a new subject which applies genetic theory to medical practice and studies the relationship between
human diseases and heredity. The teaching objectives of this course are:
(1) Training students to master the basic concepts and principles of genetics. Training students to grasp the mechanisms
of common genetic diseases. Enhancing students' interest in medical genetic research.
(2) Properly training students to have the ability of critical analysis and judgment for the common genetic diseases in the
diagnosis, testing, prevention, treatment and genetic counseling.
(3) Introducing the new achievements and new technologies in the field of medical genetics. Thus, it lays a solid
foundation for related research work and further study of medical knowledge.
16.
预达学习成果 Learning Outcomes
通过本门课的学习使学生掌握医学遗传学的基础知识，包括基因的结构、功能与突变，正常人类染色体基础知识，临床常
见的单基因病与多基因病，线粒体疾病，染色体疾病，遗传与肿瘤发生的关系等。要求学生能够：
1. 掌握五大类遗传性疾病的遗传缺陷和基本特点；
2. 掌握和熟悉常见的遗传性疾病的发病机理、遗传学改变及主要临床特征；
3. 初步做到理论联系实际，能识别常见的遗传病，并能估计它在患者亲属中的发生风险。
Through the course, students can master the basic knowledge of medical genetics, including the structure, function and
mutation of genes, basic knowledge of normal human chromosomes, common clinical monogenic diseases and
polygenic diseases, mitochondrial diseases, chromosomal diseases, the relationship between heredity and tumor
genesis, etc.
(1) To grasp the genetic defects and basic characteristics of five kinds of hereditary diseases;
无 None
3
(2) To grasp and familiarize with the pathogenesis, genetic changes and main clinical features of common hereditary
diseases.
(3) To have the ability of combining theory with practice and can identify common genetic diseases and estimate their
recurrence risk in patients' relatives.
17.
课程内容及教学日历 （如授课语言以英文为主，则课程内容介绍可以用英文；如团队教学或模块教学，教学日历须注明
主讲人）
Course Contents (in Parts/Chapters/Sections/Weeks. Please notify name of instructor for course section(s), if
this is a team teaching or module course.)
第一章
Chapter 1
遗传学与医学
Genetics and Medicine
健康与疾病的遗传基础
Genetic basis of health and disease
医学遗传学简史
A brief history of medical genetics
遗传病的分类及特征
Classification and characteristics of genetic diseases
第二章
Chapter 2
人类基因组与基因
Human Genome and Gene
人类基因组组成与遗传规律
Human Genome Composition and Heredity
基因及其表达与调控
Gene and its expression and regulation
基因突变及其生物学效应
Gene mutation and its biological effects
第三章
Chapter 3
表观遗传
Epigenetics
表观遗传修饰
Epigenetic modification
表观遗传与疾病
Epigenetics and disease
表观遗传与肿瘤
Epigenetics and tumor
表观遗传与衰老
Epigenetics and aging
表观遗传的生物学意义
Biological significance of epigenetics
第四章
Chapter 4
医学遗传学研究技术
Medical Genetics Research Technology
染色体分析技术
Chromosome analysis technique
核酸分析技术
Nucleic acid analysis technology
基因功能分析技术
Gene function analysis
第五章
人类染色体和染色体病
4
Chapter 5
Human Chromosome and Chromosomal Diseases
人类染色体的基本特征
Basic characteristics of human chromosomes
染色体畸变
Chromosomal aberration
染色体病
Chromosomal disease
第六章
Chapter 6
单基因遗传病
Monogenous hereditary diseases
常染色体显性遗传
Autosomal dominant inheritance
常染色体隐性遗传
Autosomal recessive inheritance
X 连锁显性遗传
X-linked dominant inheritance
X 连锁隐性遗传
X-linked recessive inheritance
Y 连锁遗传病
Y-linked genetic disease
非经典性孟德尔遗传
Non-classical Mendelian inheritance
第七章
Chapter 7
多基因遗传病
Polygenic hereditary diseases
多基因遗传病发病机制的相关学说
Related theory of the pathogenesis of polygenic genetic diseases
多基因遗传病致病基因的研究方法
Polygenic genetic disease research method
几种常见的多基因遗传病
Several common polygenic genetic diseases
第八章
Chapter 8
群体遗传
Population genetics
什么是群体遗传学？
What is population genetics?
群体遗传组成 – 基因频率和基因型频率
Population genetic composition – gene frequency and genotype frequency
影响基因频率的因素
Factors affecting gene frequency
近亲婚配及其对群体遗传素质的影响
Close relatives marriage and its influence on the genetic quality of the population
第九章
Chapter 9
生化遗传病
Biochemical hereditary diseases
生化遗传学
Biochemical Genetics
生化遗传疾病
Biochemical genetic disorders
5
第十章
Chapter 10
线粒体遗传病
Mitochondrial hereditary diseases
线粒体 DNA 的遗传学特点
Genetic characteristics of mitochondrial DNA
线粒体遗传病
Mitochondrial genetic disease
第十一章
Chapter 11
药物反应的遗传基础
The genetic basis of drug response
药物遗传学
Pharmacogenetics
药物代谢的遗传变异
Genetic variation of drug metabolism
第十二章
Chapter 12
免疫遗传
Immunological inheritance
人类红细胞抗原遗传
Human erythrocyte antigen inheritance
人类白细胞抗原遗传
Human leukocyte antigen inheritance
第十三章
Chapter 13
遗传与肿瘤
Genetics and Tumors
染色体异常与肿瘤
Chromosomal abnormalities and tumors
癌基因
Cancer gene
肿瘤抑制基因
Tumor suppressor gene
遗传型恶性肿瘤
Hereditary malignant tumor
肿瘤发生的遗传学理论
Genetic theory of tumorigenesis
第十四章
Chapter 14
临床遗传
Clinical genetics
遗传病的诊断
Diagnosis of genetic diseases
遗传病的治疗
Treatment of genetic diseases
遗传病的预防
Prevention of genetic diseases
第十五章
Chapter 15
遗传服务的伦理问题
Ethical issues of genetic services
遗传服务
Genetic services
遗传咨询中的伦理问题
Ethical issues in genetic counseling
基因治疗中的伦理问题
6
Ethical issues in gene therapy
辅助生殖中的伦理问题
Ethical issues in assisted reproduction
第十六章
Chapter 16
复习和学生报告
Review and Student Report
章节
Chapter
教 学 内 容
Teaching Contents
学 时
Teaching
Hours
Chapter 1
遗传学与医学
Genetics and Medicine
3
Chapter 2
人类基因组与基因
Human Genome and Gene
3
Chapter 3
表观遗传
Epigenetics
3
Chapter 4
医学遗传学研究技术
Medical Genetics Research Technology
3
Chapter 5
人类染色体和染色体病
Human Chromosome and Chromosomal Diseases
3
Chapter 6
单基因遗传病
Monogenous hereditary diseases
3
Chapter 7
多基因遗传病
Polygenic hereditary diseases
3
Chapter 8
群体遗传
Population genetics
3
Chapter 9
生化遗传病
Biochemical hereditary diseases
3
Chapter 10
线粒体遗传病
Mitochondrial hereditary diseases
3
Chapter 11
药物反应的遗传基础
The genetic basis of drug response
3
Chapter 12
免疫遗传
Immunological inheritance
3
Chapter 13
遗传与肿瘤
Genetics and Tumors
3
Chapter 14
临床遗传
Clinical genetics
3
Chapter 15
遗传服务的伦理问题
Ethical issues of genetic services
3
复习和学生报告
Review and Student Report
3
18.
教材及其它参考资料 Textbook and Supplementary Readings
教材 Text book:
[1] 陈竺. 医学遗传学（第 3 版）[M]. 北京: 人民卫生出版社, 2015.
[2] 林恩·乔德. Medical Genetics 医学遗传学[M].北京: 人民卫生出版社, 2017.
参考书 Reference books：
7
[1] 左伋. 医学遗传学（第 7 版）[M]. 北京: 人民卫生出版社, 2018.
[2] Lynn B. Jorde. Medical Genetics, 5e[M]. Amsterdam: Elsevier, 2015.
[3] G. Bradley Schaefer. Medical Genetics[M]. United States: McGraw-Hill Education, 2017.
[4] Peter D Turnpenny, Sian Ellard. Emery's Elements of Medical Genetics[M]. Amsterdam: Elsevier, 2017.
课程评估 ASSESSMENT
19.
评估形式
Type of
Assessment
评估时间
Time
占考试总成绩百分比
% of final
score
违纪处罚
Penalty
备注
Notes
出勤与课堂表现
Attendance
and Class
Performance
5
出勤与课堂表现综合评价占 5%。
Attendance and overall classroom
performance accounted for 5%.
小测验
Quiz
课程项目 Projects
平时作业
Assignments
平时考试
Monthly Test
80
共 4 次考试（平均每个月一次考试）
每次考试占总成绩 20%，
4 次合计占总成绩 80%。
Totally four tests (average monthly).
Each exam accounted for 20%.
Four exams accounted for 80%.
期中考试
Mid-Term Test
期末考试
Final Exam
期末报告
Final
Presentation
15
写一篇与遗传性疾病有关的论文
Write a paper on medical genetic
disease
其它（可根据需要
改写以上评估方
式）
Others (The
above may be
modified as
necessary)
20.
记分方式 GRADING SYSTEM
A. 十三级等级制 Letter Grading
B. 二级记分制（通过/不通过） Pass/Fail Grading
课程审批 REVIEW AND APPROVAL
21.
本课程设置已经过以下责任人/委员会审议通过
This Course has been approved by the following person or committee of authority
本课程已经医学院教学副主任张文勇教授审核通过。
8