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
Alexander Endler  PhD

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

5. Lectures 10 Thu 3-4 Liu Wen 11 12 13 14 15 16 17 18 Classroom：1402
Week Date Day Course
Content Teacher 10
11.11
Thu
3-4
Medical Genetics & Genetic disease
Liu Wen 11
11.18
Single Gene Disorder
Alexander Endler 12
11.25
Polygene Disorder 13
12.2
Chromosomal Disease 14
12.9
Mitochondrial Disease 15
12.16
Genetics and Cancer 16
12.23
Birth defect 17
12.30
Students presentation 18
1.7
Exam　
Classroom：1402

6. Lab training Lab：13-214 11 Fri 5-8 12 14 15 Week Date Day Course
Content Teacher 11
11.19
Fri
5-8
Preparation of chromosome samples
Liu Xiaoyu 12
11.26
G banding & samples of chromosome diseases 14
12.10
Extraction of Genomic DNA 15
12.17
Detection of gene mutation by PCR
Lab：13-214

7. Thompson & Thompson Genetics in Medicine, 7th
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

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

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

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

20. What is Medical Genetics?
human genetics

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

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

23. Homework ☆ Pedigree：
Nov 25th

24. Symbols

25. What is 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.

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

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

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

29. What is Medical Genetics?
Imagining Diagnosis

30. harelip

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

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

33. What is Medical Genetics?
Therapy
Consult

34. 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.

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

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

37. Down syndrome
albinism

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

39. 3 Pedigree of Genetic Disease

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

41. x
hemophilia
（Blood clotting，to bleed）

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

43. Family number of DMD

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

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

46. Creutzfeldt－Jakob disease
tribe

47. 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

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

50. 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
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 hypercholesterolemia
143890
19p13.2
遗传性出血性毛细血管扩张
hemorrhagic telangiectasia
187300
9q34.1
遗传性球形红细胞症
elliptocytosis
130500
1p36.2-p34
急性间歇性卟淋症
porphyria, acute intermittent
176000
11q23.3
迟发性成骨发育不全症
osteogenesis imperfecta, type I
166200
17q21.31-q22
成年多囊肾病
polycystic kidney disease, adult
173900
16p13.3-p13.12
-珠蛋白生成障碍性贫血
alpha-thalassemias
141800
16pter-p13.3
短指（趾）症A1型
brachydactyly, type A1
112500
2q35-q36
特发性肥大性主动脉瓣下狭窄
supravalvular aortic stenosis
185500
7q11.2
遗传性巨血小板病，肾炎和耳聋
Fechtner syndrome
153640
22q11.2
Noonan综合征
Noonan syndrome 1
163950
12q24.1
神经纤维瘤
neurofibromatosis, type I
162200
17q11.2
结节性脑硬化
tuberous sclerosis
191100
16p13.3，9q34
多发性家族性结肠息肉症
adenomatous polyposis of the colon
175100
5q21-q22
Peutz-Jeghers综合征
Peutz-Jeghers syndrome
175200
19p13.3
Von Willebrand病
Von Willebrand disease
193400
12p13.3
肌强直性营养不良
dystrophia myotonica 1
160900
19q13.2-q13.3

51. 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

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

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

55. Symptoms
Physical characteristics
Organ defects
Mental retardation

56. physical characteristics
small eyes
cleft lip,cleft palate
low-set ears

57. physical characteristics
rocker foot

58. Organ defects
heart defects
spinal defects

59. abnormal genitalia
gastrointestinal hernias
polycystic kidney disease

60. mental retardation
Incomplete brain development
Low IQ

61. 99％do not survive gestation and are spontaneously aborted
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

62. Diagnosis &Treatment
Diagnosis: chromosome analysis
NO TREATMENT

63. 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. 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.

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

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

69. 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

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

71. 一些mtDNA突变相关的疾病 突变 相关基因 表型 mt-3243 tRNALeu(UUR) MELAS、PEO、NIDDM/耳聋
心肌病
mt-3260
心肌病/肌病
mt-4269
tRNAIle
mt-5730
tRNAAsn
肌病(PEO)
mt-8344
tRNALys
MERRF
mt-8356
MERRF/MELAS
mt-15990
tRNAPro 肌病
mt-8993 A6
NARP/LEIGH
mt-11778
ND4
LHON
mt-4160
ND1
mt-3460
mt-7444
COX1
mt-14484
ND6
mt-15257
Cyt6

72. The End