2. A Karyotype is an Arranged Picture of Chromosomes At Their
Most Condensed State
A normal
human
karyotype
Note that almost all chromosomes come in homologous pairs.
Boy or
girl?
5. Chromosome Structure
Single DNA strand
+ proteins
Chromosome arm
Centromere
Chromosome arm
6. Chromosome Structure
Two identical
chromosomes Single DNA strand
+ proteins
Chromosome arm
Centromere
Chromosome arm
7. Chromosome Structure
Two identical
chromosomes Single DNA strand
+ proteins
Chromosome arm
Centromere
Chromosome arm
Before duplication
8. Chromosome Structure
Two identical
chromosomes Single DNA strand
+ proteins
Chromosome arm
Centromere
Chromosome arm
Before duplication After duplication
11. Mutations
Point mutations
single base change
12. Mutations
Point mutations
single base change
base-pair
substitution
13. Mutations
Point mutations
single base change
base-pair
substitution
silent mutation
14. Mutations
Point mutations
single base change
base-pair
substitution
silent mutation
no amino acid change
15. Mutations
Point mutations
single base change
base-pair
substitution
silent mutation
no amino acid change
redundancy in code
16. Mutations
Point mutations
single base change
base-pair
substitution
silent mutation
no amino acid change
redundancy in code
missense
17. Mutations
Point mutations
single base change
base-pair
substitution
silent mutation
no amino acid change
redundancy in code
missense
change amino acid
18. Mutations
Point mutations
single base change
base-pair
substitution
silent mutation
no amino acid change
redundancy in code
missense
change amino acid
nonsense
19. Mutations
Point mutations
single base change
base-pair
substitution
silent mutation
no amino acid change
redundancy in code
missense
change amino acid
nonsense
change to stop codon
20. Mutations
Point mutations
single base change
base-pair
substitution
silent mutation
no amino acid change
redundancy in code
missense
change amino acid
nonsense
change to stop codon
When do mutations
affect the next
generation?
26. Chloride channel
transports chloride through
Effect on Lungs protein channel out of cell
normal lungs Osmotic effects: H2O follows Cl-
airway
Cl- Cl- channel
H 2O
cells lining
lungs
cystic fibrosis
Cl-
H 2O
bacteria & mucus build up
thickened mucus
hard to secrete
mucus secreting glands
34. Chromosomal abnormalities
Incorrect number of chromosomes
nondisjunction
chromosomes don’t separate properly
during meiosis
35. Chromosomal abnormalities
Incorrect number of chromosomes
nondisjunction
chromosomes don’t separate properly
during meiosis
breakage of chromosomes
36. Chromosomal abnormalities
Incorrect number of chromosomes
nondisjunction
chromosomes don’t separate properly
during meiosis
breakage of chromosomes
deletion
37. Chromosomal abnormalities
Incorrect number of chromosomes
nondisjunction
chromosomes don’t separate properly
during meiosis
breakage of chromosomes
deletion
duplication
38. Chromosomal abnormalities
Incorrect number of chromosomes
nondisjunction
chromosomes don’t separate properly
during meiosis
breakage of chromosomes
deletion
duplication
inversion
39. Chromosomal abnormalities
Incorrect number of chromosomes
nondisjunction
chromosomes don’t separate properly
during meiosis
breakage of chromosomes
deletion
duplication
inversion
translocation
42. Nondisjunction
Problems with meiotic spindle cause errors in
daughter cells
homologous chromosomes do not separate
properly during Meiosis 1
2n
43. Nondisjunction
Problems with meiotic spindle cause errors in
daughter cells
homologous chromosomes do not separate
properly during Meiosis 1
sister chromatids fail to separate during Meiosis 2
2n
44. Nondisjunction
Problems with meiotic spindle cause errors in
daughter cells
homologous chromosomes do not separate
properly during Meiosis 1
sister chromatids fail to separate during Meiosis 2
too many or too few chromosomes
2n
45. Nondisjunction
Problems with meiotic spindle cause errors in
daughter cells
homologous chromosomes do not separate
properly during Meiosis 1
sister chromatids fail to separate during Meiosis 2
too many or too few chromosomes
2n
46. Nondisjunction
Problems with meiotic spindle cause errors in
daughter cells
homologous chromosomes do not separate
properly during Meiosis 1
sister chromatids fail to separate during Meiosis 2
too many or too few chromosomes
2n
47. Nondisjunction
Problems with meiotic spindle cause errors in
daughter cells
homologous chromosomes do not separate
properly during Meiosis 1
sister chromatids fail to separate during Meiosis 2
too many or too few chromosomes
2n n
n
48. Nondisjunction
Problems with meiotic spindle cause errors in
daughter cells
homologous chromosomes do not separate
properly during Meiosis 1
sister chromatids fail to separate during Meiosis 2
too many or too few chromosomes
2n
49. Nondisjunction
Problems with meiotic spindle cause errors in
daughter cells
homologous chromosomes do not separate
properly during Meiosis 1
sister chromatids fail to separate during Meiosis 2
too many or too few chromosomes
2n
50. Nondisjunction
Problems with meiotic spindle cause errors in
daughter cells
homologous chromosomes do not separate
properly during Meiosis 1
sister chromatids fail to separate during Meiosis 2
too many or too few chromosomes
2n
51. Nondisjunction
Problems with meiotic spindle cause errors in
daughter cells
homologous chromosomes do not separate
properly during Meiosis 1
sister chromatids fail to separate during Meiosis 2
too many or too few chromosomes
2n
52. Nondisjunction
Problems with meiotic spindle cause errors in
daughter cells
homologous chromosomes do not separate
properly during Meiosis 1
sister chromatids fail to separate during Meiosis 2
too many or too few chromosomes
2n n-1
53. Nondisjunction
Problems with meiotic spindle cause errors in
daughter cells
homologous chromosomes do not separate
properly during Meiosis 1
sister chromatids fail to separate during Meiosis 2
too many or too few chromosomes
2n n-1
n+1
58. Down syndrome
Trisomy 21
3 copies of chromosome 21
1 in 700 children born in U.S.
Chromosome 21 is the
smallest human chromosome
59. Down syndrome
Trisomy 21
3 copies of chromosome 21
1 in 700 children born in U.S.
Chromosome 21 is the
smallest human chromosome
but still severe effects
60. Down syndrome
Trisomy 21
3 copies of chromosome 21
1 in 700 children born in U.S.
Chromosome 21 is the
smallest human chromosome
but still severe effects
Frequency of Down
syndrome correlates
with the age of the mother
61. Down syndrome & age of mother
Incidence of
Mother’s age Down Syndrome
Under 30 <1 in 1000
30 1 in 900
35 1 in 400
36 1 in 300
37 1 in 230
38 1 in 180
39 1 in 135 Rate of miscarriage due to
40 1 in 105 amniocentesis:
1970s data
42 1 in 60 0.5%, or 1 in 200 pregnancies
44 1 in 35
2006 data
46 1 in 20 <0.1%, or 1 in 1600 pregnancies
48 1 in 16
49 1 in 12
72. Klinefelter’s syndrome
XXY male
one in every 2000 live births
have male sex organs, but
are sterile
feminine characteristics
73. Klinefelter’s syndrome
XXY male
one in every 2000 live births
have male sex organs, but
are sterile
feminine characteristics
some breast development
74. Klinefelter’s syndrome
XXY male
one in every 2000 live births
have male sex organs, but
are sterile
feminine characteristics
some breast development
lack of facial hair
75. Klinefelter’s syndrome
XXY male
one in every 2000 live births
have male sex organs, but
are sterile
feminine characteristics
some breast development
lack of facial hair
tall
76. Klinefelter’s syndrome
XXY male
one in every 2000 live births
have male sex organs, but
are sterile
feminine characteristics
some breast development
lack of facial hair
tall
normal intelligence
77. Klinefelter’s syndrome
XXY male
one in every 2000 live births
have male sex organs, but
are sterile
feminine characteristics
some breast development
lack of facial hair
tall
normal intelligence
78. Klinefelter’s syndrome
XXY male
one in every 2000 live births
have male sex organs, but
are sterile
feminine characteristics
some breast development
lack of facial hair
tall
normal intelligence
83. Jacob’s syndrome male
XYY Males
1 in 1000 live male
births
extra Y chromosome
slightly taller than
average
84. Jacob’s syndrome male
XYY Males
1 in 1000 live male
births
extra Y chromosome
slightly taller than
average
more active
85. Jacob’s syndrome male
XYY Males
1 in 1000 live male
births
extra Y chromosome
slightly taller than
average
more active
normal intelligence, slight learning disabilities
86. Jacob’s syndrome male
XYY Males
1 in 1000 live male
births
extra Y chromosome
slightly taller than
average
more active
normal intelligence, slight learning disabilities
delayed emotional maturity
87. Jacob’s syndrome male
XYY Males
1 in 1000 live male
births
extra Y chromosome
slightly taller than
average
more active
normal intelligence, slight learning disabilities
delayed emotional maturity
normal sexual development
88. Jacob’s syndrome male
XYY Males
1 in 1000 live male
births
extra Y chromosome
slightly taller than
average
more active
normal intelligence, slight learning disabilities
delayed emotional maturity
normal sexual development
89. Jacob’s syndrome male
XYY Males
1 in 1000 live male
births
extra Y chromosome
slightly taller than
average
more active
normal intelligence, slight learning disabilities
delayed emotional maturity
normal sexual development
108. Changes in chromosome structure
deletion
replication
error of
loss of a chromosomal segment
109. Changes in chromosome structure
deletion
replication
error of
loss of a chromosomal segment
duplication
110. Changes in chromosome structure
deletion
replication
error of
loss of a chromosomal segment
duplication
111. Changes in chromosome structure
deletion
replication
error of
loss of a chromosomal segment
duplication
repeat a segment
112. Changes in chromosome structure
deletion
replication
error of
loss of a chromosomal segment
duplication
repeat a segment
crossing over
error of
113. Changes in chromosome structure
deletion
replication
error of
loss of a chromosomal segment
duplication
repeat a segment
inversion
crossing over
error of
114. Changes in chromosome structure
deletion
replication
error of
loss of a chromosomal segment
duplication
repeat a segment
inversion
crossing over
error of
115. Changes in chromosome structure
deletion
replication
error of
loss of a chromosomal segment
duplication
repeat a segment
inversion
crossing over
reverses a segment
error of
116. Changes in chromosome structure
deletion
replication
error of
loss of a chromosomal segment
duplication
repeat a segment
inversion
crossing over
reverses a segment
error of
117. Changes in chromosome structure
deletion
replication
error of
loss of a chromosomal segment
duplication
repeat a segment
inversion
crossing over
reverses a segment
error of
translocation
118. Changes in chromosome structure
deletion
replication
error of
loss of a chromosomal segment
duplication
repeat a segment
inversion
crossing over
reverses a segment
error of
translocation
119. Changes in chromosome structure
deletion
replication
error of
loss of a chromosomal segment
duplication
repeat a segment
inversion
crossing over
reverses a segment
error of
translocation
move segment from one chromosome
to another
120. Mother cell
Nucleus with un‐ Stages Of Mitosis
condensed
chromosomes
Equator of
Interphase the cell
Poles of
Disappearing Two
the cell
nuclear Prophase daughter
membrane Mito3c cells
spindle Metaphase
Anaphase
I.P.M.A.T.
Telophase
121. GeIng it right
chromosomes (stained orange)
in kangaroo rat epithelial cell
→notice cytoskeleton fibers
122. GeIng it right
What is passed
on to daughter
cells?
exact copy of
gene3c material
= DNA
mitosis
chromosomes (stained orange)
in kangaroo rat epithelial cell
→notice cytoskeleton fibers
124. Interphase
90% of cell life cycle
cell doing its “everyday job”
produce RNA, synthesize proteins/enzymes
prepares for duplica3on if triggered
125. Interphase
90% of cell life cycle
cell doing its “everyday job”
produce RNA, synthesize proteins/enzymes
prepares for duplica3on if triggered
I’m working here!
126. Interphase
90% of cell life cycle
cell doing its “everyday job”
produce RNA, synthesize proteins/enzymes
prepares for duplica3on if triggered
I’m working here!
Time to divide
& multiply!
139. Checkpoint control system
Checkpoints
cell cycle controlled by STOP & GO chemical
signals at cri3cal points
signals indicate if key cellular
processes have been
completed correctly
146. Growth Factors and Cancer
Growth factors can create cancers
proto‐oncogenes
normally ac3vates cell division
growth factor genes
become oncogenes (cancer‐causing) when mutated
if switched “ON” can cause cancer
example: RAS (ac3vates cyclins)
tumor‐suppressor genes
normally inhibits cell division
if switched “OFF” can cause cancer
example: p53
148. Problems with cell division
Normal Cell
Obeys strict rules
Divides only when told to
Dies rather than misbehaving
Stays close to home
149. Problems with cell division
Normal Cell
Obeys strict rules
Divides only when told to
Dies rather than misbehaving
Stays close to home
Careful with chromosomes
150. Problems with cell division
muta8ons
Normal Cell
Obeys strict rules
Divides only when told to
Dies rather than misbehaving
Stays close to home
Careful with chromosomes
151. Problems with cell division
muta8ons
Normal Cell
Obeys strict rules
Divides only when told to
Dies rather than misbehaving
Stays close to home
Careful with chromosomes
152. Problems with cell division
muta8ons
Normal Cell Cancer Cell
Obeys strict rules Disobeys rules
Divides only when told to Divides at will
Dies rather than misbehaving Bad behavior doesn’t kill
Stays close to home Wanders aimlessly
Careful with chromosomes
153. Problems with cell division
muta8ons
Normal Cell Cancer Cell
Obeys strict rules Disobeys rules
Divides only when told to Divides at will
Dies rather than misbehaving Bad behavior doesn’t kill
Stays close to home Wanders aimlessly
Careful with chromosomes Careless with chromosomes
154. p53 — master regulator gene
p53 allows cells
with repaired
DNA to divide.
p53
protein DNA repair enzyme
p53
protein
Step 1 Step 2 Step 3
DNA damage is caused Cell division stops, and p53 triggers the destruction
by heat, radiation, or p53 triggers enzymes to of cells damaged beyond repair.
chemicals. repair damaged region.
abnormal
p53 protein
cancer
Step 1 Step 2 cell
DNA damage is The p53 protein fails to stop Step 3
caused by heat, cell division and repair DNA. Damaged cells continue to divide.
radiation, or Cell divides without repair to
damaged DNA. If other damage accumulates, the
chemicals. cell can turn cancerous.
155. p53 — master regulator gene
NORMAL p53
p53 allows cells
with repaired
DNA to divide.
p53
protein DNA repair enzyme
p53
protein
Step 1 Step 2 Step 3
DNA damage is caused Cell division stops, and p53 triggers the destruction
by heat, radiation, or p53 triggers enzymes to of cells damaged beyond repair.
chemicals. repair damaged region.
abnormal
p53 protein
cancer
Step 1 Step 2 cell
DNA damage is The p53 protein fails to stop Step 3
caused by heat, cell division and repair DNA. Damaged cells continue to divide.
radiation, or Cell divides without repair to
damaged DNA. If other damage accumulates, the
chemicals. cell can turn cancerous.
156. p53 — master regulator gene
NORMAL p53
p53 allows cells
with repaired
DNA to divide.
p53
protein DNA repair enzyme
p53
protein
Step 1 Step 2 Step 3
DNA damage is caused Cell division stops, and p53 triggers the destruction
by heat, radiation, or p53 triggers enzymes to of cells damaged beyond repair.
chemicals. repair damaged region.
ABNORMAL p53
abnormal
p53 protein
cancer
Step 1 Step 2 cell
DNA damage is The p53 protein fails to stop Step 3
caused by heat, cell division and repair DNA. Damaged cells continue to divide.
radiation, or Cell divides without repair to
damaged DNA. If other damage accumulates, the
chemicals. cell can turn cancerous.
160. Tumors
Mass of abnormal cells
Benign tumor
abnormal cells remain at original site as a lump
p53 has halted cell divisions
most do not cause serious problems &
can be removed by surgery
Malignant tumor
cells leave original site
lose aeachment to nearby cells
carried by blood & lymph system to other 3ssues
start more tumors = metastasis
impair func3ons of organs throughout body
172. Detecting Cancer
Pathology
Proteomic profile
Patient’s
tissue
sample or Genomic profile
blood
sample
173. Viruses
Virus
inserts
and
changes
Cancer-linked genes for
virus cell growth
174. Examples of Human Cancer Viruses
Some Viruses Associated with Human Cancers
175. Population-Based Studies
Regions of Highest Incidence
U.K.:
Lung
cancer
JAPAN:
Stomach
cancer CANADA:
Leukemia
U.S.:
CHINA: Colon
Liver cancer
cancer
BRAZIL:
Cervical
AUSTRALIA: cancer
Skin
cancer
176. DNA Mutation
A woman
DNA
CA AG C T A A C T
without her man
Normal gene
is nothing
CA AG C G A A C T
Single base change
CA A G G CG C T A A C T
Additions
C
T
CA A G A A C T
Deletions
177. DNA Mutation
A woman
DNA
CA AG C T A A C T
without her man
Normal gene
is nothing
CA AG C G A A C T
♂: A woman
Single base change
without her man,
is nothing
CA A G G CG C T A A C T
Additions
C
T
CA A G A A C T
Deletions
178. DNA Mutation
A woman
DNA
CA AG C T A A C T
without her man
Normal gene
is nothing
CA AG C G A A C T
♂: A woman
Single base change
without her man,
is nothing
CA A G G CG C T A A C T
Additions
♀: A woman,
C
T
without her, man
CA A G A A C T
is nothing
Deletions
182. DNA NORMAL CELL
damaging
agents Successful DNA repair
DNA damage Cell Death
INITIATION
Failure of DNA repair
INITIATED CELL
PROMOTION
Cell Prolifera8on/
AND
Altered
PROGRESSION Differen8a8on
Prolifera8on
Cancerous Addi8onal
Muta8ons
MALIGNACY
187. Many Flavonoids are
An/‐oxidants
Flavonoids are
an3oxidants
An3oxidants are
chemicals that destroy
free radicals
Free radicals are reac3ve
molecules that destroy
DNA, proteins and faey
acids in cells
Blueberries