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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 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 • 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. Lectures

  6. Lab training

  7. Text book • Reference Thompson & Thompson Genetics in Medicine, 7th Principles of Medical Genetics (Williams & Wikins)

  8. Exam: Exam 40% Presentation 30% Lab report 20% Homework 10％

  9. Introduction First Story 46,XY karyotype

  10. 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.

  11. androgen insensitivity syndrome， AIS（雄激素不敏感综合征） XR 46,XY karyotype retained testis

  12. Introduction Second Story • Mechanism 47,XXY (extra chromosome ) Klinefelter sydrome mania ??

  13. Introduction-Disease and Genetics A. Disease caused by (or related to) environmental stress. Bird Flu SARS H1N1 Flu

  14. Introduction-Disease and Genetics B. Disease caused by (or related to) genetic factors. Down syndrome Many of the common physical features Low IQ

  15. Introduction-Disease and Genetics Duchenne muscular dystrophy caused by a gene mutation

  16. Introduction-Disease and Genetics C. diseases caused by the combined action of gene and environment. connate rachitis Conjoined Twins

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

  18. What is Medical Genetics? human genetics

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

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

  21. Homework☆Pedigree： Nov 25th

  22. Symbols

  23. 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.

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

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

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

  27. What is Medical Genetics? Imagining Diagnosis

  28. harelip

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

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

  31. What is Medical Genetics? Therapy Consult

  32. 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.

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

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

  35. Down syndrome albinism

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

  37. 3 Pedigree of Genetic Disease

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

  39. x hemophilia （Blood clotting，to bleed）

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

  41. Family number of DMD

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

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

  44. Creutzfeldt－Jakob disease tribe

  45. 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

  46. 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

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

  48. 表 一些常染色体显性遗传病举例

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