Medical Genetics,Learning Outline
For Medical Students
No.356.140.1
Aim and Requirement
Characters of Course:
Basic course of medicine
Contents,
Genetic Medicine is a course to introduce basic knowledge of genetics and clinical
genetics，to display new development of genetic medicine，and to practise some useful
techniques of genetic medicine.
Requirement:
Master basic knowledge of genetics
Understand knowledge about clinical genetics include of mechanism and genetic
Regulation of genetic disease.
Comprehend new developments of genetic medicine,
Learn some techniques of genetic medicine,
Teaching manners
Both of experimental courses(1/2) and theoretical courses(1/2) are in practice.
Reference
1.Mosby’s crash course-cell biology and genetics Emma Jones,Anna Morris 2004
2.Principle of Medical Genetics (2nd) Gelehrter TD,Collins FS,Ginsburg D 2002
Content
1.Preface(1st week)
1.1 Task of genetic medicine
1.2 General introduction of genetic disease
1.3 Researching Strategy of genetic disease
2,Human genes(2nd week)
2.1 General concept of gene
2.2 Chemical basis of gene
2.3 Basic characters of gene
2.4 Human genomics
3.Gene mutation(3rdweek)
3.1 Mutation factors
3.2 Characters of gene mutation
3.3 Mechanism of gene mutation
3.4 Repair of gene mutation
4,Inheritance of Monogenic disorders (5thweek)
4.1 Pedigree analysis
4.2 Autosomal dominant inheritance
4.3 Autosomal recessive inheritance
4.4 X-linked dominant inheritance
4.5 X-linked recessive inheritance
4.6 Y-linked inheritance
5,Polygenic disorders heredity (6th week)
5.1 Quantitative character and polygenic inheritance
5.2 Polygenic disorders heredity
5.3Development of polygenic disorders researchment
6.Mitochondrial genetics(7th week)
6.1 Mitochondrial genomics
6.2 Inheritance of mitochondrial disease
7.Mutated genes in population (8th week)
7.1 Population
7.2 Hardy-Weinberg law
7.3 Effect factors of Hardy-Weinberg law
7.4 Genetic load
8.Chromsome(9th week)
8.1 Chromatin and chromsome
8.2 Karyotype and nomoclature
9.Chromsome aberration(10thweek)
9.1 Induced factors of aberration
9.2 Quantitative aberration of chromosome
9.3 Structure aberration of chromosome
10.Gene mutation and cellular effect (11th week)
10.1 Protein deficiency induced by gene mutation
10.2 Character errors induced by gene mutation
11,Monogenic disorders (12th -13th week)
11.1 Molecular disease
11.2 Inborn errors of metabolism
12,Polygenic disorders (14thweek)
12.1 Schuzophrenia
12.2 Diabetes mellitus
12.3 Bronchial asthma
13,Mitochondiral disease(14th week)
13.1 Changement of mitochondria during disease
13.2 Regulation of cell death
13.3 Cell death and Medicine
14.Chromosomal disorder(15th)
14.1 General introduction of chromosomal disorder
14.2 Autosomal disease
14.3 Sex chromosomal disease
14.4 Carrier
15.Immunogenetics(16th)
15.1 Inheritance of ABO antigen
15.2 HLA and medicine
15.3 Immunodeficiency
15.4 Hereditary autoimmune disease
16.Tumor genetics
16.1 Genetic character of tumor
16.2 Oncogene
16.3 Tumor suppressor gene
17.Congenital malformation
17.1Clinical characters of congenital malformation
17.2 Pathologic basis of congenital malformation
17.3 Developmental characters of congenital malformation
18.Diagnosis of genetic disease
18.1 Principle of genetic disease diagnosis
18.2 Molecular diagnosis
19.Therapy of genetic disease
19.1 Principle of genetic disease therapy
19.2 Original therapy of genetic disease
19.3 Gene therapy
20.Genetic counseling and eugenics
20.1 Genetic counseling
20.2 Recurrence risk
20.3 Eugenics
For Medical Students
No.356.140.1
Aim and Requirement
Characters of Course:
Basic course of medicine
Contents,
Genetic Medicine is a course to introduce basic knowledge of genetics and clinical
genetics，to display new development of genetic medicine，and to practise some useful
techniques of genetic medicine.
Requirement:
Master basic knowledge of genetics
Understand knowledge about clinical genetics include of mechanism and genetic
Regulation of genetic disease.
Comprehend new developments of genetic medicine,
Learn some techniques of genetic medicine,
Teaching manners
Both of experimental courses(1/2) and theoretical courses(1/2) are in practice.
Reference
1.Mosby’s crash course-cell biology and genetics Emma Jones,Anna Morris 2004
2.Principle of Medical Genetics (2nd) Gelehrter TD,Collins FS,Ginsburg D 2002
Content
1.Preface(1st week)
1.1 Task of genetic medicine
1.2 General introduction of genetic disease
1.3 Researching Strategy of genetic disease
2,Human genes(2nd week)
2.1 General concept of gene
2.2 Chemical basis of gene
2.3 Basic characters of gene
2.4 Human genomics
3.Gene mutation(3rdweek)
3.1 Mutation factors
3.2 Characters of gene mutation
3.3 Mechanism of gene mutation
3.4 Repair of gene mutation
4,Inheritance of Monogenic disorders (5thweek)
4.1 Pedigree analysis
4.2 Autosomal dominant inheritance
4.3 Autosomal recessive inheritance
4.4 X-linked dominant inheritance
4.5 X-linked recessive inheritance
4.6 Y-linked inheritance
5,Polygenic disorders heredity (6th week)
5.1 Quantitative character and polygenic inheritance
5.2 Polygenic disorders heredity
5.3Development of polygenic disorders researchment
6.Mitochondrial genetics(7th week)
6.1 Mitochondrial genomics
6.2 Inheritance of mitochondrial disease
7.Mutated genes in population (8th week)
7.1 Population
7.2 Hardy-Weinberg law
7.3 Effect factors of Hardy-Weinberg law
7.4 Genetic load
8.Chromsome(9th week)
8.1 Chromatin and chromsome
8.2 Karyotype and nomoclature
9.Chromsome aberration(10thweek)
9.1 Induced factors of aberration
9.2 Quantitative aberration of chromosome
9.3 Structure aberration of chromosome
10.Gene mutation and cellular effect (11th week)
10.1 Protein deficiency induced by gene mutation
10.2 Character errors induced by gene mutation
11,Monogenic disorders (12th -13th week)
11.1 Molecular disease
11.2 Inborn errors of metabolism
12,Polygenic disorders (14thweek)
12.1 Schuzophrenia
12.2 Diabetes mellitus
12.3 Bronchial asthma
13,Mitochondiral disease(14th week)
13.1 Changement of mitochondria during disease
13.2 Regulation of cell death
13.3 Cell death and Medicine
14.Chromosomal disorder(15th)
14.1 General introduction of chromosomal disorder
14.2 Autosomal disease
14.3 Sex chromosomal disease
14.4 Carrier
15.Immunogenetics(16th)
15.1 Inheritance of ABO antigen
15.2 HLA and medicine
15.3 Immunodeficiency
15.4 Hereditary autoimmune disease
16.Tumor genetics
16.1 Genetic character of tumor
16.2 Oncogene
16.3 Tumor suppressor gene
17.Congenital malformation
17.1Clinical characters of congenital malformation
17.2 Pathologic basis of congenital malformation
17.3 Developmental characters of congenital malformation
18.Diagnosis of genetic disease
18.1 Principle of genetic disease diagnosis
18.2 Molecular diagnosis
19.Therapy of genetic disease
19.1 Principle of genetic disease therapy
19.2 Original therapy of genetic disease
19.3 Gene therapy
20.Genetic counseling and eugenics
20.1 Genetic counseling
20.2 Recurrence risk
20.3 Eugenics
