01 医学遗传学绪论.ppt

　　01　医学遗传学绪论introduction to medical Genetics

　　Arrangement

　　Teacher: Liu Wen PhD associate prof (liuwen@shmu.edu.cn) David Saffen PhD Prof (saffen@fudan.edu.cn) Wang Hao PhD Engineer (wanghao01@fudan.edu.cn)

　　Exam: Presentation Review Lab report

　　Introduction What is Medical Genetics? Genetic disease Role of Medical Genetics in Medical Education.

　　Introduction

　　Introduction

　　Introduction

　　Disease caused by (or related to) environmental stress. Bird Flu (upper) SARS (right)

　　Introduction

　　Down syndrome Disease caused by (or related to) genetic factors.

　　Duchenne muscular dystrophy, (DMD)

　　Introduction

　　Duchenne muscular dystrophy caused by a gene mutation

　　Introduction

　　diseases caused by the combined action of gene and environment.

　　Conjoined Twins

　　connate rachitis

　　Introduction

　　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.

　　Tongue rolling

　　Free/attached ear lobe

　　Hair line of the forehead

　　widow peak

　　Evaginable thumb

　　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

　　What is Medical Genetics?

　　diagnosis

　　What is Medical Genetics?

　　diagnosis

　　What is Medical Genetics?

　　diagnosis

　　What is Medical Genetics?

　　prevention

　　What is Medical Genetics?

　　therapy

　　Genetic disease

　　A. What is genetic disorder? A genetic disorder is a disease that is caused by an abnormality in an individual’s DNA. Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes.

　　Genetic disease

　　B. Characteristics of genetic disorders 1. population distribution 2. mode of inheritance 3. congenital 4. familial 5. infectious

　　Genetic disease

　　B. Characteristics of genetic disorders 1.population distribution 2. mode of inheritance 3. congenital 4. familial 5. infectious

　　Genetic disease

　　B. Characteristics of genetic disorders 1. population distribution 2. mode of inheritance 3. congenital 4. familial 5. infectious

　　Genetic disease

　　B. Characteristics of genetic disorders 1. population distribution 2. mode of inheritance 3. congenital 4. familial 5. infectious

　　Genetic disease

　　B. Characteristics of genetic disorders 1. population distribution 2. mode of inheritance 3. congenital 4. familial 5. infectious

　　Genetic disease

　　B. Characteristics of genetic disorders 1. population distribution 2. mode of inheritance 3. congenital 4. familial 5. infectious

　　Genetic disease

　　human prion diseases genetic and infectious

　　Genetic disease

　　C. Classification of Genetic Disorders 1. single-gene disorders 2. chromosome disorders 3. multifactorial disorders 4. somatic cell genetic disorders 5. mitochondrial disorders

　　Genetic disease

　　C. Classification of Genetic Disorders 1. single-gene disorders 2. chromosome disorders 3. multifactorial disorders 4. somatic cell genetic disorders 5. mitochondrial disorders

　　Genetic disease

　　Single-gene disorders result when a mutation causes the protein product of a single gene to be altered or missing.

　　表 一些常染色体显性遗传病举例

　　Genetic disease

　　C. Classification of Genetic Disorders 1. single-gene disorders 2. chromosome disorders 3. multifactorial disorders 4. somatic cell genetic disorders 5. mitochondrial disorders

　　In chromosome disorders, entire chromosomes, or large segments of them, are missing, duplicated, or otherwise altered.

　　Cri-du-Chat syndrome is French for "cry of the cat," referring to the distinctive cry of children with this disorder. The cry is caused by abnormal larynx development, one of the many symptoms associated with this disorder.

　　Cri-du-chat is caused by a deletion (the length of which may vary) on the short arm of chromosome 5.

　　Genetic disease

　　C. Classification of Genetic Disorders 1. single-gene disorders 2. chromosome disorders 3. multifactorial disorders 4. somatic cell genetic disorders 5. mitochondrial disorders

　　Multiple genes are missing as a result of this deletion, and each may contribute to the symptoms of the disorder. One of the deleted genes known to be involved is TERT (telomerase reverse transcriptase). This gene is important during cell division because it helps to keep the tips of chromosomes (telomeres) in tact.

　　Genetic disease

　　Multifactorial disorders result from mutations in multiple genes, often coupled with environmental causes.

　　Genetic disease

　　C. Classification of Genetic Disorders 1. single-gene disorders 2. chromosome disorders 3. multifactorial disorders 4. somatic cell genetic disorders 5. mitochondrial disorders

　　Genetic disease

　　Somatic cell genetic diseases: result from the altered genetic materials in somatic cells.

　　Genetic disease

　　C. Classification of Genetic Disorders 1. single-gene disorders 2. chromosome disorders 3. multifactorial disorders 4. somatic cell genetic disorders 5. mitochondrial disorders

　　Genetic disease

　　Mitochondrial genetic diseases: Due to the mutation of mitochondrial DNA.

　　一些mtDNA突变相关的疾病

　　Genetic disease

　　D. Practice in clinical medicine 1. How can a physician recognize that a disorder is genetic? 2. Risk 3. The load of genetic disease 4. Ethical principles in medical genetics

　　Genetic disease

　　E. Strategy of genetic disorder research 1. single-gene disorder 2. chromosome disorder 3. multifactorial disorder

　　Role of Medical Genetics in Medical Education

　　The End