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

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

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

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

5. Medical Genetics Week Date Day CourseContent Teacher 10 11.12 Thu 3-4 Introduction / Medical Genetics Liu Wen 11 11.19 Thu 3-4 Single Gene DisorderAlexander Endler 12 11.27 Fri 5-8 Preparation of chromosome samplesLiu Xiaoyu 12 11.26 Thu 3-4 Polygene Disorder / Mitochondrial Disease Liu Wen 13 12.4 Fri 5-8 G banding Liu Xiaoyu 13 12.3 Thu 3-4 Chromosomal DiseaseAlexander Endler 14 12.11 Fri 5-8 Extraction of Genomic DNA Liu Xiaoyu 14 12.10 Thu 3-4 Genetics and Cancer/ Birth defect Liu Wen 15 12.18 Fri 5-8 Detection of gene mutation by PCR Liu Xiaoyu 15 12.17 Thu 3-4 Students Presentation Liu Wen 16 12.24 Thu 3-4 Students presentation Liu Wen 17 12.31 Thu 3-4 Students presentation Liu Wen 18 1.7 Thu 3-4 Exam Liu Wen Classroom ： 2608 Lab ： 13-214

6. Medical Genetics Text book Reference

7. Medical Genetics Exam: Presentation 50% Review OR Exam 30% Lab report 20%

8. Medical Genetics Introduction 46,XY karyotype

9. Medical Genetics 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.

10. Medical Genetics Introduction 47,XXY (extra chromosome ) Klinefelter sydrome mania ?? Mechanism

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

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

13. Medical Genetics

14. Introduction Duchenne muscular dystrophy caused by a gene mutation

15. Medical Genetics

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

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

18. Medical Genetics What is Medical Genetics? human genetics

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

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

21. Medical Genetics 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.

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

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

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

25. Medical Genetics What is Medical Genetics? Imagining Diagnosis

26. Medical Genetics harelip

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

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

29. Medical Genetics What is Medical Genetics? Therapy Consult

30. Medical Genetics 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.

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

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

33. Medical Genetics x hemophilia

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

35. Medical Genetics 3 Pedigree of Genetic Disease

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

37. Medical Genetics albinism Down syndrome

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

39. Medical Genetics

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

42. Medical Genetics Genetic disease human prion diseases genetic and infectious Neuron ： Vacuolar degeneration

43. Medical Genetics Creutzfeldt － Jakob disease tribe

44. Medical Genetics 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

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

47. Medical Genetics 表 一些常染色体显性遗传病举例 疾病中文名称疾病英文名称 OMIM 染色体定位 家族性高胆固醇血症 familial hypercholesterolemia14389019p13.2 遗传性出血性毛细血管扩张 hemorrhagic telangiectasia1873009q34.1 遗传性球形红细胞症 elliptocytosis1305001p36.2-p34 急性间歇性卟淋症 porphyria, acute intermittent17600011q23.3 迟发性成骨发育不全症 osteogenesis imperfecta, type I16620017q21.31-q22 成年多囊肾病 polycystic kidney disease, adult17390016p13.3- p13.12  - 珠蛋白生成障碍性贫血 alpha-thalassemias14180016pter-p13.3 短指（趾）症 A1 型 brachydactyly, type A11125002q35-q36 特发性肥大性主动脉瓣下狭窄 supravalvular aortic stenosis1855007q11.2 遗传性巨血小板病，肾炎和耳聋 Fechtner syndrome15364022q11.2 Noonan 综合征 Noonan syndrome 116395012q24.1 神经纤维瘤 neurofibromatosis, type I16220017q11.2 结节性脑硬化 tuberous sclerosis191100 16p13.3 ， 9q34 多发性家族性结肠息肉症 adenomatous polyposis of the colon 1751005q21-q22 Peutz-Jeghers 综合征 Peutz-Jeghers syndrome17520019p13.3 Von Willebrand 病 Von Willebrand disease19340012p13.3 肌强直性营养不良 dystrophia myotonica 116090019q13.2-q13.3

48. Medical Genetics 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

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

50. Medical Genetics

51. Patau syndrome Patau syndrome Trisomy 13 -- the presence of an extra (third) chromosome 13 in all of the cells.

52. Medical Genetics Symptoms Physical characteristics Organ defects Mental retardation

53. Medical Genetics physical characteristics cleft lip,cleft palate small eyes low-set ears

54. Medical Genetics physical characteristics rocker foot

55. Medical Genetics Organ defects heart defects spinal defects

56. Medical Genetics abnormal genitalia gastrointestinal hernias polycystic kidney disease

57. Medical Genetics mental retardation Incomplete brain development Low IQ

58. Medical Genetics  99 ％ do not survive gestation and are spontaneously aborted  82-85% do not survive past 1 month of age, 85% do not survive past 1 year of age

59. Medical Genetics Diagnosis &Treatment Diagnosis: chromosome analysis NO TREATMENT

60. Medical Genetics 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

61. Medical Genetics 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.

62. Medical Genetics Genetic disease Multifactorial disorders result from mutations in multiple genes, often coupled with environmental causes.

63. Medical Genetics 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

64. Medical Genetics Genetic disease Somatic cell genetic diseases: result from the altered genetic materials in somatic cells.

65. Medical Genetics

66. 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

67. Medical Genetics Genetic disease Mitochondrial genetic diseases: Due to the mutation of mitochondrial DNA.

68. Medical Genetics 一些 mtDNA 突变相关的疾病 突变相关基因表型 mt-3243tRNA Leu(UUR) MELAS 、 PEO 、 NIDDM/ 耳聋 mt-3256tRNA Leu(UUR) PEO mt-3271tRNA Leu(UUR) MELAS mt-3303tRNA Leu(UUR) 心肌病 mt-3260tRNA Leu(UUR) 心肌病 / 肌病 mt-4269tRNA Ile 心肌病 mt-5730tRNA Asn 肌病 (PEO) mt-8344tRNA Lys MERRF mt-8356tRNA Lys MERRF/MELAS mt-15990tRNA Pro 肌病 mt-8993A6NARP/LEIGH mt-11778ND4LHON mt-4160ND1LHON mt-3460ND1LHON mt-7444COX1LHON mt-14484ND6LHON mt-15257Cyt6LHON

69. Medical Genetics The End