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14
Mendel and the Gene Idea
Biology
Eighth Edition
Neil Campbell and Jane Reece
Lectures by Chris Romero, updated by Erin Barley with contributions from Joan Sharp
Copyright 2008 Pearson Education, Inc., publishing as Pearson Benjamin Cummings
Fig. 14-1
Fig. 14-2
TECHNIQUE
1
Parental
generation
(P)
Stamens
Carpel
3
RESULTS
First
filial
generation
offspring
(F1)
Fig. 14-2a
TECHNIQUE
1
Parental
generation
(P)
Stamens
Carpel
3
Fig. 14-2b
RESULTS
First
filial
generation
offspring
(F1)
The Law of
Segregation
When Mendel crossed contrasting, truebreeding white and purple flowered pea plants,
all of the F1 hybrids were purple
When Mendel crossed the F1 hybrids, many of
the F2 plants had purple flowers, but some had
white
Mendel discovered a ratio of about three to
one, purple to white flowers, in the F2
generation
Copyright 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Fig. 14-3-1
EXPERIMENT
P Generation
(true-breeding
parents)
Purple
flowers
White
flowers
Fig. 14-3-2
EXPERIMENT
P Generation
(true-breeding
parents)
Purple
flowers
White
flowers
F1 Generation
(hybrids)
Fig. 14-3-3
EXPERIMENT
P Generation
(true-breeding
parents)
Purple
flowers
White
flowers
F1 Generation
(hybrids)
F2 Generation
Table 14-1
Mendels
Model
Mendel developed a hypothesis to explain the
3:1 inheritance pattern he observed in F2
offspring
Four related concepts make up this model
These concepts can be related to what we now
know about genes and chromosomes
Fig. 14-4
Homologous
pair of
chromosomes
Fig. 14-5-1
P Generation
Fig. 14-5-2
P Generation
F1 Generation
Appearance:
Genetic makeup:
Gametes:
Purple flowers
Pp
1
/2 P
/2
Fig. 14-5-3
P Generation
F1 Generation
Appearance:
Genetic makeup:
Gametes:
Purple flowers
Pp
1
/2 P
/2
Sperm
F2 Generation
PP
Pp
Pp
pp
P
Eggs
p
Useful Genetic
Vocabulary
An organism with two identical alleles for a
character is said to be homozygous for the
gene controlling that character
An organism that has two different alleles for a
gene is said to be heterozygous for the gene
controlling that character
Unlike homozygotes, heterozygotes are not
true-breeding
Fig. 14-6
Phenotype
Genotype
Purple
PP
(homozygous)
Purple
Pp
(heterozygous)
Purple
Pp
(heterozygous)
White
pp
(homozygous)
Ratio 3:1
Ratio 1:2:1
The
Testcross
How can we tell the genotype of an individual
with the dominant phenotype?
Such an individual must have one dominant
allele, but the individual could be either
homozygous dominant or heterozygous
The answer is to carry out a testcross: breeding
the mystery individual with a homozygous
recessive individual
If any offspring display the recessive phenotype,
the mystery parent must be heterozygous
Copyright 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Fig. 14-7
TECHNIQUE
Pp
Eggs
Pp
Eggs
P
Pp
If Pp
Sperm
p
p
or
Pp
Pp
Pp
pp
pp
RESULTS
or
All offspring purple
Fig. 14-7a
TECHNIQUE
Pp
Pp
P
Pp
Pp
If Pp
Sperm
p
p
or
P
Eggs
p
Pp
Pp
pp
pp
Fig. 14-7b
RESULTS
or
All offspring purple
Fig. 14-8
EXPERIMENT
yyrr
YYRR
P Generation
Gametes YR
F1 Generation
yr
YyRr
Hypothesis of
dependent
assortment
Predictions
Hypothesis of
independent
assortment
Sperm
or
Predicted
offspring of
F2 generation
/4 YR
Sperm
1
/2 YR 1/2 yr
1
/2 YR
/4 YR
/4 Yr
/4 yR 1/4 yr
YYRR YyRr
Eggs
/2
/4 Yr
Eggs
yr
YyRr
3
/4
yyrr
1
/4 yR
/4
1
/4 yr
/16
YYRr
YYrr
Yyrr
YyRr
/16
Yyrr
3
yyRr
/16
yyrr
/16
RESULTS
315
108
101
32
Fig. 14-8a
EXPERIMENT
YYRR
P Generation
yyrr
Gametes YR
F1 Generation
YyRr
/2
/2
/4
Sperm
/2
YR
YR
/2
yr
YYRR YyRr
Eggs
1
Sperm
or
Predicted
offspring of
F2 generation
1
Hypothesis of
independent
assortment
Hypothesis of
dependent
assortment
Predictions
yr
/4
YR
Yr
/4
Eggs
yr
yyrr
YyRr
/4
/4
yR
/4
YR
/4
Yr
/4
yR 1/4 yr
Yyrr
YyRr
YYrr
yr
/4
YyRr
/16
/16
yyRr
Yyrr
/16
yyrr
1
/16
Fig. 14-8b
RESULTS
315
108
101
32
Fig. 14-9
Rr
Segregation of
alleles into eggs
Rr
Segregation of
alleles into sperm
Sperm
1
/2
R
1
/2
Eggs
/4
/2
/2
R
r
1
/4
r
r
r
1
/4
/4
Fig. 14-UN1
Degrees of Dominance
Complete dominance occurs when
phenotypes of the heterozygote and dominant
homozygote are identical
In incomplete dominance, the phenotype of
F1 hybrids is somewhere between the
phenotypes of the two parental varieties
In codominance, two dominant alleles affect
the phenotype in separate, distinguishable
ways
Copyright 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Fig. 14-10-1
P Generation
Red
CRCR
Gametes
White
C W CW
CR
CW
Fig. 14-10-2
P Generation
Red
CRCR
Gametes
White
C W CW
CR
CW
Pink
CRCW
F1 Generation
1
Gametes /2 CR
/2 C W
Fig. 14-10-3
P Generation
Red
CRCR
White
C W CW
CR
Gametes
CW
Pink
CRCW
F1 Generation
1
Gametes /2 CR
/2 C W
Sperm
1
/2 CR
/2 CW
F2 Generation
/ 2 CR
Eggs
CRCR
CR CW
CR CW
CW CW
/ 2 CW
Multiple
Alleles
Most genes exist in populations in more than
two allelic forms
For example, the four phenotypes of the ABO
blood group in humans are determined by
three alleles for the enzyme (I) that attaches A
or B carbohydrates to red blood cells: IA, IB, and
i.
The enzyme encoded by the IA allele adds the
A carbohydrate, whereas the enzyme encoded
by the IB allele adds the B carbohydrate; the
enzyme encoded by the i allele adds neither
Copyright 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Fig. 14-11
Allele
IA
IB
Carbohydrate
A
B
i
none
(a) The three alleles for the ABO blood groups
and their associated carbohydrates
Genotype
Phenotype
(blood group)
IAIA or IA i
IBIB or IB i
IA IB
AB
ii
Pleiotrop
y
Most genes have multiple phenotypic effects, a
property called pleiotropy
For example, pleiotropic alleles are responsible
for the multiple symptoms of certain hereditary
diseases, such as cystic fibrosis and sickle-cell
disease
Epistasi
s
In epistasis, a gene at one locus alters the
phenotypic expression of a gene at a second
locus
For example, in mice and many other
mammals, coat color depends on two genes
One gene determines the pigment color (with
alleles B for black and b for brown)
The other gene (with alleles C for color and c
for no color) determines whether the pigment
will be deposited in the hair
Copyright 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Fig. 14-12
BbCc
Sperm
/4
BC
/4
bC
BbCc
/4
Bc
/4
bc
Eggs
/4
/4
/4
/4
BC
BBCC
BbCC
BBCc
BbCc
BbCC
bbCC
BbCc
bbCc
BBCc
BbCc
BBcc
Bbcc
BbCc
bbCc
Bbcc
bbcc
bC
Bc
bc
: 3
: 4
Polygenic
Inheritance
Quantitative characters are those that vary in
the population along a continuum
Quantitative variation usually indicates
polygenic inheritance, an additive effect of
two or more genes on a single phenotype
Skin color in humans is an example of
polygenic inheritance
Fig. 14-13
AaBbCc AaBbCc
Sperm
/8
/8
/8
/8
/8
/8
/64
15
/8
/8
/8
/8
/8
/8
Eggs
/8
/8
/8
1
1
/8
1
Phenotypes:
/64
Number of
dark-skin alleles: 0
/64
1
15
/64
2
20
/64
4
/64
/64
Fig. 14-14
Pedigree
Analysis
A pedigree is a family tree that describes the
interrelationships of parents and children
across generations
Inheritance patterns of particular traits can be
traced and described using pedigrees
Fig. 14-15
Key
Male
Female
1st generation
(grandparents)
Affected
male
Affected
female
Ww
Mating
Offspring, in
birth order
(first-born on left)
ww
ww
2nd generation
(parents, aunts,
Ww ww ww Ww
and uncles)
Ww
Ww ww
3rd generation
(two sisters)
WW ww
or
Ww
No widows peak
Widows peak
(a) Is a widows peak a dominant or recessive trait?
1st generation
(grandparents)
Ff
2nd generation
(parents, aunts,
FF or Ff f
and uncles)
Ff
Ff
Ff
Ff
FF
or
Ff
3rd generation
(two sisters)
Attached earlobe
Free earlobe
Fig. 14-15a
Key
Male
Female
Affected
male
Affected
female
Mating
Offspring, in
birth order
(first-born on left)
Fig. 14-15b
1st generation
(grandparents)
2nd generation
(parents, aunts,
and uncles)
Ww
ww
Ww ww ww Ww
ww
Ww
Ww
ww
3rd generation
(two sisters)
WW
or
Ww
Widows peak
ww
No widows peak
Fig. 14-15c
1st generation
(grandparents)
Ff
2nd generation
(parents, aunts,
and uncles)
FF or Ff f
Ff
Ff
Ff
Ff
FF
or
Ff
3rd generation
(two sisters)
Attached earlobe
Free earlobe
Recessively Inherited
Disorders
Many genetic disorders are inherited in a
recessive manner
Fig. 14-16
Parents
Normal
Aa
Normal
Aa
Sperm
A
AA
Normal
Aa
Normal
(carrier)
Aa
Normal
(carrier)
aa
Albino
Eggs
Cystic
Fibrosis
Cystic fibrosis is the most common lethal
genetic disease in the United States,striking
one out of every 2,500 people of European
descent
The cystic fibrosis allele results in defective or
absent chloride transport channels in plasma
membranes
Symptoms include mucus buildup in some
internal organs and abnormal absorption of
nutrients in the small intestine
Copyright 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Sickle-Cell
Disease
Sickle-cell disease affects one out of 400
African-Americans
The disease is caused by the substitution of a
single amino acid in the hemoglobin protein in
red blood cells
Symptoms include physical weakness, pain,
organ damage, and even paralysis
Dominantly Inherited
Disorders
Some human disorders are caused by
dominant alleles
Dominant alleles that cause a lethal disease
are rare and arise by mutation
Achondroplasia is a form of dwarfism caused
by a rare dominant allele
Fig. 14-17
Parents
Dwarf
Dd
Normal
dd
Sperm
D
Dd
Dwarf
dd
Normal
Dd
Dwarf
dd
Normal
Eggs
Huntingtons
Disease
Huntingtons disease is a degenerative
disease of the nervous system
The disease has no obvious phenotypic effects
until the individual is about 35 to 40 years of
age
Multifactorial
Disorders
Many diseases, such as heart disease and
cancer, have both genetic and environmental
components
Little is understood about the genetic
contribution to most multifactorial diseases
Fetal
Testing
In amniocentesis, the liquid that bathes the
fetus is removed and tested
In chorionic villus sampling (CVS), a sample
of the placenta is removed and tested
Other techniques, such as ultrasound and
fetoscopy, allow fetal health to be assessed
visually in utero
Fig. 14-18
Amniotic fluid
withdrawn
Centrifugation
Fetus
Placenta
Uterus
Fetus
Placenta
Cervix
Fluid
Fetal
cells
BioSeveral chemical
hours
tests
Several
weeks
Several
weeks
(a) Amniocentesis
Karyotyping
Chorionic
villi
Several
hours
Suction tube
inserted
through
cervix
Fetal
cells
Several
hours
Fig. 14-18a
Amniotic fluid
withdrawn
Centrifugation
Fetus
Placenta
Uterus
Cervix
Fluid
Fetal
cells
BioSeveral chemical
hours
tests
Several
weeks
Several
weeks Karyotyping
(a) Amniocentesis
Fig. 14-18b
Fetus
Placenta
Biochemical
tests
Karyotyping
Chorionic
villi
Several
hours
Suction tube
inserted
through
cervix
Fetal
cells
Several
hours
Newborn
Screening
Some genetic disorders can be detected at
birth by simple tests that are now routinely
performed in most hospitals in the United
States
Fig. 14-UN2
Degree of dominance
Complete dominance
of one allele
Example
Description
Heterozygous phenotype
PP
same as that of homozygous dominant
Pp
CRCW CWCW
Codominance
Heterozygotes: Both
phenotypes expressed
Multiple alleles
Pleiotropy
IAIB
Sickle-cell disease
Fig. 14-UN3
Relationship among
genes
Epistasis
Example
Description
One gene affects
the expression of
another
BbCc
BC
BbCc
BC bC Bc bc
bC
Bc
bc
9
Polygenic
inheritance
A single phenotypic
AaBbCc
character is
affected by
two or more genes
:3
:4
AaBbCc
Fig. 14-UN4
Fig. 14-UN5
George
Sandra
Tom
Sam
Arlene
Wilma
Ann
Michael
Carla
Daniel
Alan
Tina
Christopher
Fig. 14-UN6
Fig. 14-UN7
Fig. 14-UN8
Fig. 14-UN9
Fig. 14-UN10
Fig. 14-UN11