复旦大学上海医学院：《医学遗传学 Medical Genetics》课程教学资源_医学遗传学英文大纲

Medical Genetics: Learning Outline For Medical students No356.140.1 Aim and Requirement Characters of Courge 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 ot Requirement: Master basic knowledge of genetics Understand knowledge about clinical genetics include of mechanism and genetic 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, GinsburgD 2002 Content 1. Preface( 1st week) 1. 1 Task of genetic medicine 1.2 General introduction of 1.3 Researching Strategy of genetic disease 2. Hu 2. 1 General concept of gene 2.2 Chemical basis of gene 2.3 Basic characters of gene 2.4 Human genomIcs

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(3week) 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(5 tweek) 4. 1 Pedigree analysis 4.2 Autosomal dominant inheritance 4.3 Autosomal recessive inheritance 4. X-linked dominant inheritance 4.5 X-linked recessive inheritance 4.6Y-linked inheritance 5. Polygenic disorders heredity (6n week) 5. 1 Quantitative character and polygenic inheritance 5.2 Polygenic disorders heredity 5. 3 Development of polygenic disorders researchment 6. Mitochondrial genetics( 7n week) 6. 1 Mitochondrial genomics 6.2 Inheritance of mitochondrial disease 7. Mutated genes in population(8 week) 7. 1 Population 7.2 Hardy-Weinberg law 7.3 Effect factors of Hardy-Weinberg lav 7. 4 Genetic load 8.Chromsome(9 week) 8.1 Chromatin and chromsome 8.2 Karyotype and nomoclature 9. Chromsome aberration(10thweek) 9.1 Induced factors of aberration 9.2 Quantitat 9.3 Structure aberration of chromosome 10.Gene mutation and cellular effect(11 th week 10. 1 Protein deficiency induced by gene mutation 10.2 Character errors induced by gene mutation 11. Monogenic disorders(12th-13th week)

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(14 week 12. 1 Schizophrenia 12. 2 Diabetes mellitus 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 15.1 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 16.2On 16.3 Tumor suppressor gene 17. Congenital malformation 17. 1 Clinical 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.Th 19. 1 Principle of genetic disease therapy 19.2 Original therapy of genetic disease 19.3 Gene therapy

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 counsell 20.2Re 20.3 Eugenics

20.Genetic counseling and eugenics 20.1 Genetic counseling 20.2 Recurrence risk 20.3 Eugenics