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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 Introduction What is Medical Genetics? Genetic disease. Arrangement. Teacher: Liu Wen PhD associate prof (liuwen@shmu.edu.cn) Liu Xiaoyu PhD assistant Prof (liubio@163.com) Alexander Endler PhD. 1.5 credits

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01 　医学遗传学绪论 introduction to medical Genetics

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  1. 01　医学遗传学绪论introduction to medical Genetics

  2. Arrangement • Introduction • What is Medical Genetics? • Genetic disease

  3. Arrangement Teacher: Liu Wen PhD associate prof (liuwen@shmu.edu.cn) Liu Xiaoyu PhD assistant Prof (liubio@163.com) AlexanderEndler PhD

  4. 1.5 credits • Lecture:2 classes/week (9 weeks) • Lab:4 classes/week (4 weeks)

  5. Text book • Reference

  6. Exam: Presentation 50% Review OR Exam 30% Lab report 20%

  7. Introduction 46,XY karyotype

  8. Androgen insensitivity syndrome, AIS • Mechanism Caused by mutations of the gene encoding the androgen receptor. • symptoms A person with complete androgen insensitivity syndrome (CAIS) has a female external appearance, and suppressed menstruation.

  9. Introduction • Mechanism 47,XXY (extra chromosome ) Klinefelter sydrome mania ??

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

  11. Introduction Disease caused by (or related to) genetic factors. Down syndrome Many of the common physical features Low IQ

  12. Introduction Duchenne muscular dystrophy caused by a gene mutation

  13. Introduction diseases caused by the combined action of gene and environment. connate rachitis Conjoined Twins

  14. Introduction Genetic Disorders :disorders caused wholly or partly by genetic factors.

  15. What is Medical Genetics? human genetics

  16. What is Medical Genetics? human genetics: The science of variation and heredity in human beings.

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

  18. 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.

  19. What is Medical Genetics? Medical Genetics Wilson’s disease Mechanism of Genetic Disease

  20. What is Medical Genetics? Clinical Genetics the application to diagnosis and patient care

  21. What is Medical Genetics? diagnosis albinism Sickle cell anemia

  22. What is Medical Genetics? Imagining Diagnosis

  23. harelip

  24. What is Medical Genetics? Molecular Diagnosis incision enzyme Gel electrophoresis

  25. What is Medical Genetics? Prevention phenylphruvic acid PKU/PAH (Phenylalanine hydroxylase)

  26. What is Medical Genetics? Therapy Consult

  27. 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.

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

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

  30. x hemophilia

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

  32. 3 Pedigree of Genetic Disease

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

  34. Down syndrome albinism

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

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

  37. Genetic disease human prion diseases genetic and infectious Neuron ： Vacuolar degeneration

  38. Creutzfeldt－Jakob disease tribe

  39. 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

  40. 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

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

  42. 表 一些常染色体显性遗传病举例

  43. 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

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

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