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Mendelian
Genetics
Figure 14.1
Figure 14.3-1
EXPERIMENT
P Generation
(true-breeding
parents)
Purple
flowers
White
flowers
Figure 14.3-2
EXPERIMENT
P Generation
(true-breeding
parents)
F1 Generation
(hybrids)
Purple
flowers
White
flowers
All plants had purple flowers
Self- or cross-pollination
Figure 14.3-3
EXPERIMENT
P Generation
(true-breeding
parents)
Purple
flowers
White
flowers
F1 Generation
(hybrids)
All plants had purple flowers
Self- or cross-pollination
F2 Generation
705 purpleflowered
plants
224 white
flowered
plants
Table 14.1
Figure 14.4
Allele for purple flowers
Locus for flower-color gene
Pair of
homologous
chromosomes
Allele for white flowers
Figure 14.5-3
P Generation
Appearance:
Purple flowers White flowers
Genetic makeup:
pp
PP
p
Gametes:
P
F1 Generation
Appearance:
Genetic makeup:
Gametes:
Purple flowers
Pp
1/
1/
2 p
2 P
Sperm from F1 (Pp) plant
F2 Generation
P
Eggs from
F1 (Pp) plant
p
3
P
p
PP
Pp
Pp
pp
:1
Figure 14.6
3
Phenotype
Genotype
Purple
PP
(homozygous)
Purple
Pp
(heterozygous)
1
2
1
Purple
Pp
(heterozygous)
White
pp
(homozygous)
Ratio 3:1
Ratio 1:2:1
1
Figure 14.7
TECHNIQUE
Dominant phenotype,
unknown genotype:
PP or Pp?
Predictions
If purple-flowered
parent is PP
Sperm
p
p
Recessive phenotype,
known genotype:
pp
or
If purple-flowered
parent is Pp
Sperm
p
p
P
Pp
Eggs
P
Pp
Eggs
P
p
Pp
Pp
Pp
Pp
pp
pp
RESULTS
or
All offspring purple
1/
2
offspring purple and
1/ offspring white
2
Figure 14.10-1
P Generation
White
CWCW
Red
CRCR
Gametes
CR
CW
Figure 14.10-2
P Generation
White
CWCW
Red
CRCR
Gametes
CR
CW
F1 Generation
Gametes 1/2 CR
Pink
CRCW
1/
2
CW
Figure 14.10-3
P Generation
White
CWCW
Red
CRCR
CR
Gametes
CW
F1 Generation
Pink
CRCW
1/
Gametes 1/2 CR
2
CW
Sperm
F2 Generation
1/
2
CR
1/
2
CW
Eggs
1/
2
CR
1/
2
CW
CRCR CRCW
CRCW CWCW
Figure 14.11
(a) The three alleles for the ABO blood groups and their
carbohydrates
IA
Allele
Carbohydrate
IB
i
none
B
A
(b) Blood group genotypes and phenotypes
Genotype
IAIA or IAi
IBIB or IBi
IAIB
ii
A
B
AB
O
Red blood cell
appearance
Phenotype
(blood group)
Figure 14.14
Figure 14.13
AaBbCc
AaBbCc
Sperm
1/
1/
8
8
1/
1/
Eggs
8
1/
1/
8
8
1/
8
1/
1/
8
8
8
8
1/
8
1/
8
1/
1/
8
1/
8
1/
8
1/
8
Phenotypes:
Number of
dark-skin alleles:
1/
64
0
6/
64
1
15/
64
2
20/
64
3
15/
64
4
6/
64
5
1/
64
6
Figure 14.12
BbEe
Eggs
1/
4 BE
1/
4 bE
1/
4 Be
1/
4
be
Sperm
1/ BE
4
1/
BbEe
4 bE
1/
4 Be
1/
4 be
BBEE
BbEE
BBEe
BbEe
BbEE
bbEE
BbEe
bbEe
BBEe
BbEe
BBee
Bbee
BbEe
bbEe
Bbee
bbee
9
: 3
: 4
Figure 14.9
Rr
Segregation of
alleles into eggs

Rr
Segregation of
alleles into sperm
Sperm
1/
R
2
2
Eggs
4
r
2
r
R
R
1/
1/
r
2
R
R
1/
1/
1/
4
r
r
R
r
1/
4
1/
4
Figure 14.8
EXPERIMENT
YYRR
P Generation
yyrr
yr
Gametes YR
F1 Generation
Predictions
YyRr
Hypothesis of
dependent assortment
Hypothesis of
independent assortment
Sperm
or
Predicted
offspring of
F2 generation
1/
Sperm
1/
2
YR
1/
2
2
YR
YyRr
YYRR
Eggs
1/
2
1/
4
YR
4
Yr
4
yR
4
yr
Eggs
yr
YyRr
3/
yyrr
1/
4
YR
1/
4
1/
Yr
4
yR
1/
4
yr
yr
1/
1/
4
1/
YYRR
YYRr
YyRR
YyRr
YYRr
YYrr
YyRr
Yyrr
YyRR
YyRr
yyRR
yyRr
YyRr
Yyrr
yyRr
yyrr
4
Phenotypic ratio 3:1
1/
9/
16
3/
16
3/
16
1/
16
Phenotypic ratio 9:3:3:1
RESULTS
315
108
101
32
Phenotypic ratio approximately 9:3:3:1
Figure 14.UN01
Probability of YYRR  1/4 (probability of YY)  1/4 (RR)  1/16
Probability of YyRR  1/2 (Yy)
 1/4 (RR)  1/8
Figure 14.UN02
ppyyRr
ppYyrr
Ppyyrr
PPyyrr
ppyyrr
1/ (yy)  1/ (Rr)
(probability
of
pp)

4
2
2
1/  1/  1/
4
2
2
1/  1/  1/
2
2
2
1/  1/  1/
4
2
2
1/  1/  1/
4
2
2
1/
Chance of at least two recessive traits
 1/16
 1/16
 2/16
 1/16
 1/16
 6/16 or 3/8
Figure 15.6
44 
XY
44 
XX
Parents
22 
22 
X or Y
22 
X
Sperm
Egg
44 
XX
or
44 
XY
(a) The X-Y system Zygotes (offspring)
22 
XX
22 
X
76 
ZW
76 
ZZ
32
(Diploid)
16
(Haploid)
(b) The X-0 system
(c) The Z-W system
(d) The haplo-diploid system
Figure 15.8
X chromosomes
Allele for
orange fur
Early embryo:
Two cell
populations
in adult cat:
Allele for
black fur
Cell division and
X chromosome
inactivation
Active X
Inactive X
Active X
Black fur
Orange fur
Figure 15.7
XNXN
Sperm Xn
XNXn
XnY
Sperm XN
Y
XNY
XNXn
Sperm Xn
Y
XnY
Y
Eggs XN
XNXn XNY
Eggs XN
XNXN XNY
Eggs XN
XNXn XNY
XN
XNXn XNY
Xn
XNXn XnY
Xn
XnXn XnY
(a)
(b)
(c)
Figure 14.15
Key
Male
1st
generation
Affected
male
Female
Affected
female
Mating
1st
generation
Ww
ww
Ww
ww
2nd
generation
Ww
ww
3rd
generation
WW
or
Ww
Widow’s
peak
ff
ff
(a) Is a widow’s peak a dominant or
recessive trait?
Ff
Ff
Ff
ff
ff
FF
or
Ff
3rd
generation
ww
No widow’s
peak
ff
Ff
2nd
generation
FF or Ff
Ww ww ww Ww
Ff
Offspring
Attached
earlobe
Free
earlobe
b) Is an attached earlobe a dominant
or recessive trait?
Figure 15.3
Figure 15.4a
EXPERIMENT
P
Generation
F1
Generation
RESULTS
F2
Generation
All offspring
had red eyes.
Figure 15.4b
CONCLUSION
P
Generation
X
X
w
X
Y
w
w
Eggs
F1
Generation
Sperm
w
w
w
w
w
Eggs
F2
Generation
w
w
w
Sperm
w
w
w
w
w
w
Figure 15.9-1
EXPERIMENT
P Generation (homozygous)
Wild type
(gray body, normal wings)
Double mutant
(black body,
vestigial wings)
b b vg vg
b b vg vg
Figure 15.9-2
EXPERIMENT
P Generation (homozygous)
Wild type
(gray body, normal wings)
Double mutant
(black body,
vestigial wings)
b b vg vg
b b vg vg
F1 dihybrid
(wild type)
b b vg vg
TESTCROSS
Double mutant
b b vg vg
Figure 15.9-3
EXPERIMENT
P Generation (homozygous)
Wild type
(gray body, normal wings)
Double mutant
(black body,
vestigial wings)
b b vg vg
b b vg vg
F1 dihybrid
(wild type)
Double mutant
TESTCROSS
b b vg vg
b b vg vg
Testcross
offspring
Eggs b vg
b vg
Wild type
Black(gray-normal) vestigial
b vg
Grayvestigial
b vg
Blacknormal
b vg
Sperm
b b vg vg
b b vg vg
b b vg vg
b b vg vg
Figure 15.9-4
EXPERIMENT
P Generation (homozygous)
Wild type
(gray body, normal wings)
Double mutant
(black body,
vestigial wings)
b b vg vg
b b vg vg
F1 dihybrid
(wild type)
Double mutant
TESTCROSS
b b vg vg
b b vg vg
Testcross
offspring
Eggs b vg
b vg
b vg
Wild type
Black(gray-normal) vestigial
b vg
Blacknormal
Grayvestigial
b vg
Sperm
b b vg vg
b b vg vg
b b vg vg
b b vg vg
PREDICTED RATIOS
If genes are located on different chromosomes:
1
:
1
:
1
:
1
If genes are located on the same chromosome and
parental alleles are always inherited together:
1
:
1
:
0
:
0
965
:
944
:
206
:
185
RESULTS
Figure 15.10a
Gray body, normal wings
(F1 dihybrid)
Testcross
parents
Black body, vestigial wings
(double mutant)
b vg
b vg
b vg
b vg
Replication
of chromosomes
Replication
of chromosomes
Meiosis I
b vg
b vg
b vg
b vg
b vg
b vg
b vg
b vg
b vg
Meiosis I and II
b vg
b vg
b vg
Meiosis II
bvg
Eggs
Recombinant
chromosomes
b vg
b vg
b vg
b vg
Sperm
Figure 15.10b
Recombinant
chromosomes
Eggs
Testcross
offspring
bvg
965
Wild type
(gray-normal)
b vg
b vg
b vg
944
Blackvestigial
206
Grayvestigial
185
Blacknormal
b vg
b vg
b vg
b vg
b vg
b vg
b vg
b vg
Parental-type offspring
Recombinant offspring
Recombination
391 recombinants  100  17%

frequency
2,300 total offspring
b vg
Sperm
Figure 15.11
RESULTS
Recombination
frequencies
9%
Chromosome
9.5%
17%
b
cn
vg
Figure 15.12
Mutant phenotypes
Short
aristae
0
Long aristae
(appendages
on head)
Black
body
Cinnabar Vestigial
eyes
wings
48.5 57.5
Gray
body
Red
eyes
Brown
eyes
67.0
104.5
Normal
wings
Red
eyes
Wild-type phenotypes
Figure 15.13-1
Meiosis I
Nondisjunction
Figure 15.13-2
Meiosis I
Nondisjunction
Meiosis II
Nondisjunction
Figure 15.13-3
Meiosis I
Nondisjunction
Meiosis II
Nondisjunction
Gametes
n1 n1 n1 n1
n1 n1
n
n
Number of chromosomes
(a) Nondisjunction of homologous chromosomes in
meiosis I
(b) Nondisjunction of sister
chromatids in meiosis II
“Normal”
Which phase of meiosis is this?
Nondisjunction
Figure 15.15
Figure 15.15b
Figure 14.19
(a) Amniocentesis
1
(b) Chorionic villus sampling (CVS)
Ultrasound monitor
Amniotic
fluid
withdrawn
Ultrasound
monitor
Fetus
1
Placenta
Chorionic villi
Fetus
Placenta
Uterus
Cervix
Cervix
Uterus
Suction
tube
inserted
through
cervix
Centrifugation
Fluid
Fetal
cells
Several hours
2
Several
weeks
Biochemical
and genetic
tests
Several
hours
Fetal cells
2
Several hours
Several weeks
3
Karyotyping
Edward’s Syndrome
Clenched fists, small jaw, severe mental
handicap, unlikely to survive past 3 months
What causes Edward’s Syndrome?
Turner’s Syndrome
• Short female, most often sterile
(infertile), no female
development at puberty, no
mental retardation
• Treatment with growth
hormone (increase height) and
estrogen replacement (promote
female development)
• No treatment for sterility
What causes Turner’s Syndrome?
Klinefelter’s Syndrome
Male with
female
secondary sex
characteristics
(wide hips,
breasts, etc…)
Usually tall and
slender, no
retardation
Usually sterile
(cannot
reproduce)
What causes Klinefelter’s Syndrome?
Figure 15.14a
(a) Deletion
A B C D E
F G H
A deletion removes a chromosomal segment.
A B C E
F G H
(b) Duplication
A B C D E
F G H
A duplication repeats a segment.
A B C B C D E
F G H
Figure 15.14b
(c) Inversion
A B C D E
F G H
An inversion reverses a segment within a
chromosome.
A D C B E
F G H
(d) Translocation
A B C D E
F G H
M N O P Q
R
A translocation moves a segment from one
chromosome to a nonhomologous chromosome.
M N O C D E
F G H
A B P Q
R
Figure 15.16
Normal chromosome 9
Normal chromosome 22
Reciprocal translocation
Translocated chromosome 9
Translocated chromosome 22
(Philadelphia chromosome)
Cri du Chat Syndrome
Larynx (voicebox) malformed, high pitched
voice (cry of the cat), mental handicap
What causes Cri du Chat?
Figure 16.2
EXPERIMENT
Living S cells
(control)
Living R cells
(control)
Heat-killed
S cells
(control)
Mixture of
heat-killed
S cells and
living R cells
RESULTS
Mouse dies
Mouse healthy
Mouse healthy
Mouse dies
Living S cells
Figure 16.4-1
EXPERIMENT
Phage
Radioactive
protein
Bacterial cell
Batch 1:
Radioactive
sulfur
(35S)
DNA
Radioactive
DNA
Batch 2:
Radioactive
phosphorus
(32P)
Figure 16.4-2
EXPERIMENT
Phage
Radioactive
protein
Empty
protein
shell
Bacterial cell
Batch 1:
Radioactive
sulfur
(35S)
DNA
Phage
DNA
Radioactive
DNA
Batch 2:
Radioactive
phosphorus
(32P)
Figure 16.4-3
EXPERIMENT
Phage
Radioactive
protein
Empty
protein
shell
Radioactivity
(phage protein)
in liquid
Bacterial cell
Batch 1:
Radioactive
sulfur
(35S)
DNA
Phage
DNA
Centrifuge
Pellet (bacterial
cells and contents)
Radioactive
DNA
Batch 2:
Radioactive
phosphorus
(32P)
Centrifuge
Radioactivity
Pellet (phage DNA)
in pellet
Figure 16.UN04
Figure 16.6
(a) Rosalind Franklin
(b) Franklin’s X-ray diffraction
photograph of DNA
Figure 16.1
Figure 16.7b
(c) Space-filling model
Figure 16.7a
C
Hydrogen bond
G
3 end
C
G
G
5 end
G
C
A
T
C
3.4 nm
A
T
G
C
G
G
C
A
T
1 nm
C
T
C
C
A
G
T
A
T
3 end
A
T
G
A
G
G
C
C
T
A
(a) Key features of
DNA structure
0.34 nm
5 end
(b) Partial chemical structure
Figure 16.UN01
Purine  purine: too wide
Pyrimidine  pyrimidine: too narrow
Purine  pyrimidine: width
consistent with X-ray data
Figure 16.8
Sugar
Sugar
Adenine (A)
Thymine (T)
Sugar
Sugar
Guanine (G)
Cytosine (C)
Figure 16.9-3
A
T
A
T
A
T
A
T
C
G
C
G
C
G
C
G
T
A
T
A
T
A
T
A
A
T
A
T
A
T
A
T
G
C
G
C
G
C
G
C
(a) Parent molecule
(b) Separation of
strands
(c) “Daughter” DNA molecules,
each consisting of one
parental strand and one
new strand
Figure 16.10
Parent
cell
(a) Conservative
model
(b) Semiconservative
model
(c) Dispersive model
First
Second
replication replication
Figure 16.11a
EXPERIMENT
1 Bacteria
cultured in
medium with
15N (heavy
isotope)
RESULTS
3 DNA sample
centrifuged
after first
replication
2 Bacteria
transferred to
medium with
14N (lighter
isotope)
4 DNA sample
centrifuged
after second
replication
Less
dense
More
dense
Figure 16.11b
CONCLUSION
Predictions:
First replication
Conservative
model
Semiconservative
model
Dispersive
model
Second replication
Figure 16.12a
(a) Origin of replication in an E. coli cell
Origin of
replication
Parental (template) strand
Daughter (new) strand
Doublestranded
DNA molecule
Replication
bubble
Replication fork
Two
daughter
DNA molecules
0.5 m
Figure 16.12b
(b) Origins of replication in a eukaryotic cell
Double-stranded
Origin of replication DNA molecule
Parental (template)
strand
Bubble
Daughter (new)
strand
Replication fork
Two daughter DNA molecules
0.25 m
Figure 16.13
Primase
3
Topoisomerase
3
5
RNA
primer
5
3
Helicase
5
Single-strand binding
proteins
Figure 16.15a
Leading
strand
Overview
Origin of replication
Lagging
strand
Primer
Lagging
strand
Overall directions
of replication
Leading
strand
Figure 16.15b
Origin of
replication
3
5
RNA primer
5
3
3
Sliding clamp
DNA pol III
Parental DNA
5
3
5
5
3
3
5
Figure 16.16a
Overview
Leading
strand
Origin of replication
Lagging
strand
Lagging strand
2
1
Overall directions
of replication
Leading
strand
Figure 16.16b-1
3
Template
strand
5
3
5
Figure 16.16b-2
3
5
Template
strand
3
5
3
5
1
RNA primer
for fragment 1
3
5
Figure 16.16b-3
3
5
Template
strand
3
5
3
5
3
1
RNA primer
for fragment 1
3
5
Okazaki
fragment 1
5
1
3
5
Figure 16.16b-4
3
5
Template
strand
3
5
3
5
1
3
RNA primer
for fragment 2
RNA primer
for fragment 1
3
5
Okazaki
fragment 1
5
1
5
3
3
5
2
Okazaki
fragment 2
1
3
5
Figure 16.16b-5
3
5
Template
strand
3
5
3
5
1
3
RNA primer
for fragment 2
RNA primer
for fragment 1
3
5
Okazaki
fragment 1
5
1
3
5
5
3
2
Okazaki
fragment 2
1
5
3
3
5
2
1
5
3
3
5
Figure 16.16b-6
3
5
Template
strand
3
5
3
5
1
3
RNA primer
for fragment 2
RNA primer
for fragment 1
3
5
Okazaki
fragment 1
5
1
3
5
5
3
2
Okazaki
fragment 2
1
3
5
5
3
2
1
5
3
3
5
2
1
3
5
Overall direction of replication
Figure 16.17
Overview
Origin of
replication
Leading
strand
Leading strand
Lagging
strand
Overall directions
of replication
Lagging
strand
Leading
strand
DNA pol III
5
3
3
Parental
DNA
Primer
5
3
Primase
5
DNA pol III
4
Lagging strand
DNA pol I
35
3
2
DNA ligase
1 3
5
Figure 16.22a
Nucleosome
(10 nm in diameter)
DNA double helix
(2 nm in diameter)
H1
Histones
DNA, the double helix
Histones
Histone
tail
Nucleosomes, or “beads on
a string” (10-nm fiber)
Figure 16.22b
Chromatid
(700 nm)
30-nm fiber
Loops
Scaffold
300-nm fiber
30-nm fiber
Replicated
chromosome
(1,400 nm)
Looped domains
Metaphase
(300-nm fiber)
chromosome