1. basic human pathology lecture #3 developmental and ...ocw.tufts.edu/data/51/551169.pdf · 1....
Post on 08-May-2018
235 Views
Preview:
TRANSCRIPT
1. Basic Human Pathology Lecture #3 Developmental and Genetic F...
2. Introduction – Basic of Genetics
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 1
3. Mendelian Genetics
4. Mendelian Genetics
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 2
5. Genetic Predisposition to Disease
6. Gene Defects
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 3
7. Abnormal Fetal Development
8. Agenesis
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 4
9. Hypoplasia of Arm - Phocomelia
10. Developmental and Genetic Factors in Disease: Slide 10
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 5
11. Developmental and Genetic Factors in Disease: Slide 11
12. Chromosomal Disorders
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 6
13. Chromosomal Disorders
14. Chromosomal Disorders
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 7
15. Chromosomal Disorders
16. Chromosomal Disorders
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 8
17. Chromosomal Disorders
18. Chromosomal Disorders
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 9
19. Chromosomal Disorders
20. Translocations
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 10
21. Robertsonian Translocation Consequence
22. Karyotype Analysis - Chromosomal Spreads
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 11
23. Nomenclature and Notation of Karyotype Analysis
24. Sex Chromosomes: X inactivation and Barr body formation
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 12
25. Sex Chromosomes: X inactivation and Barr body formation
26. Sex Chromosomes: X inactivation and Barr body formation
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 13
27. Causes of Chromosomal Disorders
28. Chromosomal Disorders
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 14
29. Developmental and Genetic Factors in Disease: Slide 29
30. Abnormalities of Autosomal Chromosomes
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 15
31. Down syndrome - Features
32. Abnormalities of Autosomal Chromosomes
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 16
33. Developmental and Genetic Factors in Disease: Slide 33
34. Abnormalities of Autosomal Chromosomes
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 17
35. Abnormalities of Autosomal Chromosomes
36. Abnormalities of Autosomal Chromosomes
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 18
37. Common Autosomal Trisomies
38. Abnormalities of Sex Chromosomes
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 19
39. Developmental and Genetic Factors in Disease: Slide 39
40. Developmental and Genetic Factors in Disease: Slide 40
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 20
41. Abnormalities of Sex Chromosomes
42. Klinefelter Syndrome - Turner Syndrome
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 21
43. Normal Karyotype
44. Developmental and Genetic Factors in Disease: Slide 44
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 22
45. Abnormalities Due to Increased Numbers of Trinucleotide Repe...
46. Abnormalities Due to Increased Numbers of Trinucleotide Repe...
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 23
47. Fragile X Syndrome
48. Modes of Inheritance of Monogenic Disorders
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 24
49. Modes of Inheritance of Monogenic Disorders
50. Autosomal Dominant Pedigree
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 25
51. Autosomal Dominant Disorders
52. Autosomal Dominant Disorders
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 26
53. Autosomal Dominant Disorders
54. Hereditary Hemorrhagic Telangiectasia
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 27
55. Autosomal Dominant Disorders
56. Autosomal Dominant Disorders
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 28
57. Marfan Syndrome – Aortic Media
58. Autosomal Dominant Disorders
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 29
59. Autosomal Dominant Disorders
60. Neurofibromatosis – Type 1
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 30
61. Autosomal Dominant Disorders
62. Tuberous Sclerosis
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 31
63. Tuberous Sclerosis
64. Autosomal Dominant Disorders
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 32
65. Autosomal Dominant Diseases
66. Dentinogenesis Imperfecta
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 33
67. Modes of Inheritance of Monogenic Disorders
68. Modes of Inheritance of Monogenic Disorders
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 34
69. Autosomal Dominant vs. Autosomal Recessive Inheritance
70. Autosomal Recessive Pedigree
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 35
71. Autosomal Recessive Disorders
72. Lysosomal Storage Diseases - Pathogenesis
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 36
73. Autosomal Recessive Disorders
74. Lysosomal storage diseases
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 37
75. Lysosomal storage diseases
76. Lysosomal storage diseases
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 38
77. Lysosomal Storage Diseases
78. Lysosomal Storage Diseases
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 39
79. Lysosomal Storage Diseases
80. Lysosomal Storage Diseases
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 40
81. Autosomal Recessive Disorders
82. Disorders of Carbohydrate Metabolism - Galactosemia
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 41
83. Mannosidosis - Deficiency of Mannosidase
84. Disorders of Amino Acid Metabolism
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 42
85. Disorders of Amino Acid Metabolism
86. Phenylketonuria
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 43
87. Disorders of Amino Acid Metabolism
88. Ochronosis - Femoral Head
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 44
89. Disorders of Amino Acid Metabolism
90. Autosomal Recessive Disorders
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 45
91. Autosomal Recessive Disorders
92. Cystic Fibrosis
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 46
93. Cystic Fibrosis
94. Modes of Inheritance of Monogenic Disorders
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 47
95. Modes of Inheritance of Monogenic Disorders
96. X-linked Recessive Pedigree
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 48
97. X-linked Recessive Disorders
98. X-linked Recessive Disorders
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 49
99. X-Linked Recessive
100. Von Willebrand Disease
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 50
101. X-linked Recessive Disorders
102. X-Linked Hypohydrotic Ectodermal Dysplasia
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 51
103. Modes of Inheritance of Monogenic Disorders
104. Hypoplastic Amelogenesis Imperfecta
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 52
105. Modes of Inheritance of Monogenic Disorders - Single Gene Me...
106. Mitochondrial Inheritance Pedigree
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 53
107. Non-Classical Inheritance
108. Polygenic (Multifactorial) Inheritance
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 54
109. Polygenic (Multifactorial) Inheritance
110. Polygenic (Multifactorial) Traits –
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 55
111. Causes of Fetal Abnormalities
112. Fetal Abnormalities Caused by External Agents (Teratogens)...
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 56
113. Cleft Palate
114. Enamel Hypoplasia Due to Maternal Toxemia
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 57
115. Fetal Abnormalities Caused by External Agents (Teratogens)...
116. Fetal or Congenital Abnormalities from Teratogens
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 58
117. Methods of Prenatal Diagnosis
118. Newborn Screening Tests
Tufts OpenCourseWare © 2008 Tufts University
Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 59
top related