01 　医学遗传学绪论 introduction to medical Genetics

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 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. connate rachitis Conjoined Twins

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.

widow peak Evaginable thumb Hair line of the forehead Free/attached ear lobe Tongue rolling

What is Medical Genetics? Medical Genetics : Medical geneticsdeals 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? 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 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 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

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.

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

01 　医学遗传学绪论 introduction to medical Genetics