Download as pptx, pdf, or txt
Download as pptx, pdf, or txt
You are on page 1of 78

14

Mendel and
the Gene

Lecture Presentation by
Cindy S. Malone, PhD,
California State University Northridge

© 2017 Pearson Education, Ltd.


Chapter 14 Opening Roadmap.

© 2017 Pearson Education, Ltd.


Introduction to Mendel and the Gene

• Gregor Mendel worked out the rules of inheritance


through a series of experiments on garden peas
• Walter Sutton and Theodor Boveri proposed the
chromosome theory of inheritance
• Explains how genetic information is transmitted from
one generation to the next
• Linked inheritance to meiosis
• Asserted that genes are located on chromosomes
• Genetics is the branch of biology that focuses on
inheritance
© 2017 Pearson Education, Ltd.
Mendel’s Experimental System

• Heredity is the transmission of traits from parents to


their offspring
• A trait is any characteristic of an individual
• Mendel wanted to understand heredity
• In his time, two hypotheses had been formulated:
1. B
​ lending inheritance—Parental traits blend so that
their offspring have intermediate traits
2. I​nheritance of acquired characteristics—Parental
traits are modified through use and then passed on

© 2017 Pearson Education, Ltd.


The Garden Pea Served as the First Model
Organism in Genetics
• Peas were used as a model organism
• A species used for research
• Practical to work with
• Conclusions drawn from them can be applied to other
species

© 2017 Pearson Education, Ltd.


The Garden Pea Served as the First Model
Organism in Genetics
• Mendel chose peas because they
• Were inexpensive and easy to grow
• Have a short generation time
• Produce large numbers of seeds
• Can control which parents were involved in a mating
• Have several polymorphic traits
• Trait that appears commonly in two or more different
forms (e.g., purple versus white flowers)

© 2017 Pearson Education, Ltd.


How Did Mendel Control Matings?

• Peas normally self-fertilize (self-pollinate)


• Male organs produce pollen grains, which make
sperm
• Female organs produce eggs
• A flower’s pollen falls on the female organ of that
same flower
• Mendel could prevent self-pollination by removing
the male organs from a flower
• He used pollen from one flower to fertilize another
• Called a cross, or cross-pollination
© 2017 Pearson Education, Ltd.
Figure 14.1
(a) Self-fertilization

Female organ (receives pollen)

Male organs (produce pollen grains,


which produce sperm cells)
Eggs

(b) Cross-fertilization
Collect pollen from ... to the female organ of
one individual and a flower on another plant
transfer it ... whose male organs have
been removed.

© 2017 Pearson Education, Ltd.


What Traits Did Mendel Study?

• Mendel worked with pea varieties that differed in


seven easily recognizable traits:
• Seed shape, seed color, pod shape, pod color, flower
color, flower and pod position, and stem length
• An individual’s observable features comprise its
phenotype
• Mendel’s pea population had two distinct phenotypes
for each of the seven traits

© 2017 Pearson Education, Ltd.


What Traits Did Mendel Study?

• Mendel worked with pure lines


• They produced offspring identical to themselves
when self-fertilized
• He used these plants to create hybrids
• He mated two different pure lines that differed in one
or more traits

© 2017 Pearson Education, Ltd.


Mendel’s Experiments with a Single Trait

• Mendel’s first experiments involved crossing pure


lines that differed in just one trait
• Mating parents with two different phenotypes for a
single trait is called a monohybrid cross
• The adults in the cross were the parental generation
• The offspring are the F1 generation (“first filial”)

• Next generations are F2, F3, etc.

© 2017 Pearson Education, Ltd.


The Monohybrid Cross

• When Mendel crossed plants with round seeds and


plants with wrinkled seeds
• All of the F1 offspring had round seeds
• This contradicted the hypothesis of blending
inheritance
• The genetic determinant for wrinkled seeds seemed
to have disappeared
• Mendel allowed the F1 progeny to self-pollinate
• The wrinkled seed trait reappeared in the F 2
generation
© 2017 Pearson Education, Ltd.
Figure 14.2

(a) Results of Mendel’s single-trait (monohybrid) cross (b) Prediction of blending-inheritance hypothesis

Male parents Female parents Male parents Female parents


(produce round seeds) (produce wrinkled seeds) (produce round seeds) (produce wrinkled seeds)

All produce slightly


F1 generation All produce round seeds F1 generation
wrinkled seeds
Plant, grow, and Plant, grow, and allow
allow to self-fertilize to self-fertilize

F2 generation F2 generation

5474 : 1850 All produce slightly


3 : 1 wrinkled seeds

© 2017 Pearson Education, Ltd.


Dominant and Recessive Traits

• Mendel called
• The genetic determinant for wrinkled seeds
recessive
• The determinant for round seeds dominant
• Mendel repeated these experiments with each of the
other traits
• In each case, the dominant trait was present in a 3:1
ratio over the recessive trait in the F 2 generation

© 2017 Pearson Education, Ltd.


Table 14.2

© 2017 Pearson Education, Ltd.


A Reciprocal Cross

• To determine if gender influenced inheritance,


Mendel performed a reciprocal cross
• The mother’s phenotype in the first cross is the
father’s phenotype in the second cross
• The father’s phenotype in the first cross is the
mother’s phenotype in the second cross
• The results of the two crosses were identical
• It does not matter whether the genetic determinants
come from the male or female parent

© 2017 Pearson Education, Ltd.


Figure 14.3

Is the inheritance of seed shape in peas affected by whether the genetic determinant comes from a
male or female gamete?

The type of gamete does affect the inheritance of seed shape.


The type of gamete does not affect the inheritance of seed shape.

A cross The reciprocal cross


Pollen from round- ... to female organ of Round-seeded parent ... from wrinkled-
seeded parent ... wrinkled-seeded parent. receives pollen ... seeded parent.

Male parent Female parent Female parent Male parent

Offspring phenotypes will be different in the two crosses.


Offspring phenotypes will be identical in the two crosses.

Results are
identical

First cross: All progeny have round seeds. Reciprocal cross: All progeny have round seeds.

It makes no difference whether the genetic determinant for seed shape comes from the male
gamete or from the female gamete.

© 2017 Pearson Education, Ltd.


Particulate Inheritance

• Mendel’s results were inconsistent with blended


inheritance and acquired characters
• He proposed a hypothesis of particulate
inheritance
• Hereditary determinants do not blend or change
through use
• They act as discrete, unchanging particles

© 2017 Pearson Education, Ltd.


Table 14.1

© 2017 Pearson Education, Ltd.


Genes, Alleles, and Genotypes

• Hereditary determinants for a trait are called genes


• Mendel also proposed that
• Each individual has two versions of each gene
• These different versions of a gene are called alleles
• Different alleles are responsible for variation in traits
• The combination of alleles found in an individual is
called its genotype
• An individual’s genotype has a profound effect on
its phenotype
© 2017 Pearson Education, Ltd.
The Principle of Segregation

• Mendel developed the principle of segregation


• The two members of each gene pair must segregate
• They separate into different gamete cells
• During the formation of eggs and sperm in the
parents
• Mendel used a letter to indicate the gene for a
particular trait
• For example, R represented the dominant allele for
seed shape
• r represented a recessive allele for seed shape

© 2017 Pearson Education, Ltd.


The Principle of Segregation

• Individuals have two alleles of each gene


• Individuals with two copies of the same allele are
homozygous
• RR or rr
• Individuals with two different alleles are
heterozygous
• Rr

© 2017 Pearson Education, Ltd.


The Principle of Segregation

• Pure-line individuals produce offspring with the


same phenotype because they are homozygous
• A mating between two pure lines (RR and rr) results
in heterozygotes with the dominant phenotype
• A mating between two heterozygous parents
• Results in offspring that are ¼ RR, ½ Rr, and ¼ rr
• Produces a 3:1 ratio of phenotypes

© 2017 Pearson Education, Ltd.


Figure 14.4
(a) A cross between two homozygotes
Homozygous
R = Dominant allele for mother
seed shape (round)
r = Recessive allele for
seed shape (wrinkled) Meiosis

Female gametes

Homozygous
father

Meiosis
Male gametes

Offspring genotypes: All Rr (heterozygous)


Offspring phenotypes: All round seeds

(b) A cross between two heterozygotes


Heterozygous
R = Dominant allele for F1 mother
seed shape (round)
Recessive allele for
r=
seed shape (wrinkled)

Female gametes

Heterozygous
F1 father

Male gametes

Offspring genotypes: ¼ RR : ½ Rr : ¼ rr
Offspring phenotypes: ¾ round : ¼ wrinkled
© 2017 Pearson Education, Ltd.
Table 14.3

© 2017 Pearson Education, Ltd.


Predicting Offspring Genotypes and
Phenotypes with a Punnett Square
1. Write each unique gamete genotype for one parent
along the top of the diagram
2. Write each unique gamete genotype for the other
parent down the left side of the diagram
3. Fill in each box with the gamete genotypes above
and to the left of that box
4. Calculate the proportions or ratios of each offspring
genotype and phenotype

© 2017 Pearson Education, Ltd.


The Dihybrid Cross

• Mendel used dihybrid crosses


• Matings between parents that are both heterozygous
for two traits
• To determine whether alleles of different genes
segregate together or independently
• Tested two contrasting hypotheses:
1. Independent assortment—Alleles of different genes
are transmitted independently of each other
2. Dependent assortment—The transmission of one
allele depends on the transmission of another
© 2017 Pearson Education, Ltd.
The Dihybrid Cross

• Mendel’s results supported the principle of


independent assortment
• The Punnett square from a dihybrid cross predicts
• Should be 9 different offspring genotypes and 4
phenotypes
• Four possible phenotypes should be present in a
ratio
of 9:3:3:1
• Therefore, alleles of different genes are transmitted
independently of one another
© 2017 Pearson Education, Ltd.
Figure 14.5
(a) Hypothesis of independent assortment: (b) Hypothesis of dependent assortment:
Alleles of different genes don’t stay Alleles of different genes stay together when
together when gametes form. gametes form.
Female parent Female parent

r = Recessive allele
for seed shape (wrinkled)
y = Recessive allele
for seed color (green)
Female gametes Female gametes

Male parent Male parent

Male gametes Male gametes

F1 offspring all RrYy F1 offspring all RrYy


R = Dominant allele
for seed shape (round) F1 female F1 female
Y = Dominant allele
for seed color (yellow)

Female gametes Female gametes

F1 male

F1 male Male gametes

Male gametes
F2 genotypes:
F2 phenotypes:

F2 genotypes: Dashes in a genotype


F2 phenotypes: mean that either allele
can be present
(c) Mendel’s results

F2 phenotypes 556 total

Number Data are consistent with


the predictions of
Fraction of offspring independent assortment.

© 2017 Pearson Education, Ltd.


Web Activity: Mendel’s Experiments

© 2017 Pearson Education, Ltd.


Using a Testcross to Confirm Predictions

• In a testcross
• A homozygous recessive parent
• Is mated with a parent that has the dominant
phenotype but an unknown genotype
• The genotype of the second parent can be inferred
from the results
• Mendel used testcrosses to further confirm the
principle of independent assortment

© 2017 Pearson Education, Ltd.


Figure 14.6

Homozygous Parent of known phenotype


recessive parent but unknown genotype

e Co
l db uld
u be
Co

All

All

Offspring predicted if unknown Offspring predicted if unknown


parent is heterozygous parent is homozygous dominant
at both genes at both genes

© 2017 Pearson Education, Ltd.


The Chromosome Theory of Inheritance

• The chromosome theory of inheritance


• Arose out of Sutton and Boveri’s observations of
meiosis
• States that genes are located on chromosomes, at a
particular locus
• The physical separation of alleles during meiosis I is
responsible for Mendel’s principle of segregation

© 2017 Pearson Education, Ltd.


Figure 14.7
Rr parent

Dominant allele Recessive allele


for seed shape for seed shape

Chromosomes replicate

Meiosis I
Alleles segregate

Meiosis II

Gametes

Pairs of alleles are


separated during meiosis I in the formation of gametes.

© 2017 Pearson Education, Ltd.


Meiosis Explains Mendel’s Principles

• The genes for different traits assort independently of


one another at meiosis I because
• They are located on different nonhomologous
chromosomes
• They assort independently of one another
• This phenomenon explains Mendel’s principle of
independent assortment

© 2017 Pearson Education, Ltd.


Figure 14.8

Replicated chromosomes
prior to meiosis
s Ch
me rom
so co
o p uld osom
h rom line u es
Alleles for seed
C y thi line
uld wa s w up shape
co this ay
Alleles for seed
color

Meiosis I Meiosis I

Meiosis II Meiosis II

Gamet

1/4 RY 1/4 ry 1/4 Ry 1/4 rY

PRINCIPLE OF INDEPENDENT ASSORTMENT: The genes for seed shape and seed
color assort independently, because (1) they are located on different chromosomes and
(2) these chromosomes have two equally likely ways of lining up before they are segregated.

© 2017 Pearson Education, Ltd.


Testing the Chromosome Theory

• Thomas Hunt Morgan adopted fruit flies (Drosophila


melanogaster) as a model organism for genetics
• Morgan’s first goal was to identify different
phenotypes
• Wild type is the most common phenotype for each
trait
• Other phenotypes arise by mutation
• Mutants are individuals with traits caused by
mutations

© 2017 Pearson Education, Ltd.


The White-Eyed Mutant

• Red eyes are the wild-type eye color in fruit flies;


white eyes are a mutation
• Morgan mated a wild-type female with a mutant male
• All of the F1 progeny had red eyes

• Morgan did the reciprocal cross


• F1 females had red eyes

• But F1 males had white eyes

• This suggests a relationship between gender and


inheritance of eye color in Drosophila
© 2017 Pearson Education, Ltd.
Sex Linkage and the Chromosome Theory

• X and Y chromosomes are called sex chromosomes


• They determine the sex of the offspring
• Females have two X chromosomes
• Males have an X and a Y
• A gene being on the X chromosome is X-linkage
• A gene being on the Y chromosome is Y-linkage
• The general term for genes being on either sex
chromosome is sex linkage

© 2017 Pearson Education, Ltd.


Sex Linkage and the Chromosome Theory

• Sex chromosomes
• Pair during meiosis I
• Segregate during meiosis II
• Gametes have either an X or a Y chromosome
• Females produce all X gametes
• Males produce half X gametes and half Y gametes

© 2017 Pearson Education, Ltd.


Figure 14.9

X chromosome Y chromosome

Meiosis I

Meiosis II

Gametes

50% of sperm contain 50% of sperm contain


X chromosome Y chromosome

© 2017 Pearson Education, Ltd.


Sex Linkage and the Chromosome Theory

• Morgan proposed that the gene for white eye color


in fruit flies is located on the X chromosome
• Sex-linked inheritance occurs when a gene is
located on a sex chromosome
• If the gene is on the X, it is X-linked inheritance
• If the gene is on the Y, it is Y-linked inheritance
• Genes on non-sex chromosomes are said to be
autosomal and show autosomal inheritance

© 2017 Pearson Education, Ltd.


Figure 14.10

(a) One half of reciprocal cross (b) Other half of reciprocal cross
Male Male

Male gametes Male gametes


Female Female

Female Female
gametes gametes

Females Males Females Males

© 2017 Pearson Education, Ltd.


Linkage: What Happens When Genes Are
Located on the Same Chromosome?
• Linkage is the tendency of genes to be inherited
together because they are on the same
chromosome
• Linked genes
• Are predicted to always be transmitted together
during gamete formation
• Should violate the principle of independent
assortment

© 2017 Pearson Education, Ltd.


Figure 14.11
Two linked genes (one for eye
color, one for body color)
on the X chromosome

Gray body Yellow body


White eyes Red eyes

Meiosis I

Meiosis II

Female
gametes

Two, rather than four,


types of gametes
© 2017 Pearson Education, Ltd.
The Role of Crossing Over

• Do genes on the same chromosome always stay


linked?
• Morgan performed an experiment
• He mated two flies
• That were heterozygous for two sex-linked traits
• A few male offspring were recombinant
• Had combinations of alleles not found in the parents
• Linked alleles usually, but not always, stay together

© 2017 Pearson Education, Ltd.


Figure 14.12

Will genes undergo independent assortment if


they are on the same chromosome?

Linked genes will always stay linked,


violating the principle of independent assortment.

Linked genes will adhere to the principle


of independent assortment.

Red-eyed White-eyed
gray-bodied gray-bodied
female male
XwY XWy XwY Y

Because these two genes are X-linked, male


offspring will have only one copy of each gene, from their mother;
the two possible male offspring genotypes are X wYY and XWyY
Four male genotypes
are possible (XwYY : XWyY : X WyY : XWYY) and will occur with
equal frequency.

Male offspring
Phenotype Genotype Number Four male
genotypes
were observed
(rather than two),
but not the equal
frequencies
Recombinant predicted by
genotypes independent
assortment

Neither hypothesis is fully supported.


Independent assortment does not apply to linked genes—linked
genes segregate together except when crossing over and genetic
recombination have occurred.
© 2017 Pearson Education, Ltd.
The Role of Crossing Over

• Morgan proposed that


• Gametes with new, recombinant genotypes
• Were generated when crossing over occurred during
prophase of meiosis I
• Linked genes are inherited together unless crossing
over occurs
• When crossing over takes place, genetic
recombination occurs

© 2017 Pearson Education, Ltd.


Figure 14.13

Crossing over
during meiosis I

Meiosis II

Female
gametes

Recombinant chromosomes

© 2017 Pearson Education, Ltd.


The Role of Crossing Over

• Genes are more likely to cross over when they are


far apart from each other
• Percentage of recombinant offspring can be used to
estimate the relative distance between genes
• Frequency of crossing over can be used to create a
genetic map
• A diagram showing the relative positions of genes
• Along a particular chromosome

© 2017 Pearson Education, Ltd.


Figure 14.14

Gene 1
Gene 2 Gene 2

Crossing Crossing
over is rare over occurs
between frequently
genes that between
are close genes that
together are far apart

Gene 3

© 2017 Pearson Education, Ltd.


Figure 14.15

(a) Mapping genes (b) Constructing a genetic map


These
distances
are in cM
Yellow body Frequency of Yellow body
recombinant offspring White eyes
White eyes
correlates directly with
the distance between
two genes; 19.6%
recombinant offspring,
for example, is equal
to 19.6 map units
Singed bristles Singed bristles
(centiMorgans, cM).

© 2017 Pearson Education, Ltd.


How Many Alleles Can a Gene Have?

• Mendel worked with genes that had two alleles


• When there are more than two alleles of a gene in a
population, it is called multiple allelism
• May have dozens of alleles of a single gene
• Example: Humans have three common alleles for
ABO blood types
• IA, IB, and I
• Each codes for a version of an enzyme that adds
polysaccharides to the membrane of red blood cells

© 2017 Pearson Education, Ltd.


Figure 14.16

Product of Product of Product of


IA allele IB allele i allele

Core
polysaccharide

Glycoproteins
in plasma
membrane of
red blood cells

Genotype

Blood type

© 2017 Pearson Education, Ltd.


Codominance

• Alleles of a gene are not always dominant or


recessive
• Some alleles display codominance
• Neither allele is dominant or recessive to the other
• Heterozygotes display the phenotype of both alleles
• Example: ABO blood types
• Both IA and IB are dominant to I
• Yet, IAIB heterozygotes produce both polysaccharides,
resulting in the AB blood type

© 2017 Pearson Education, Ltd.


Incomplete Dominance

• Other alleles display incomplete dominance


• Heterozygotes have an intermediate phenotype
• For example, pure-line plants with red flowers (RR)
crossed to pure-line plants with white flowers (rr)
• Mendel would predict heterozygous offspring with red
flowers (Rr)
• However, Rr offspring have pink flowers

© 2017 Pearson Education, Ltd.


Figure 14.17

(a) Flower color is variable in four-o’clocks. (b) Incomplete dominance in flower color
Parental generation

F1 generation

Self-fertilization

F2 generation

Red Pink White

© 2017 Pearson Education, Ltd.


Does Each Gene Affect Just One Trait?

• The alleles Mendel analyzed affected only a single


trait
• Some genes influence many traits
• These genes are said to be pleiotropic
• For example, Marfan syndrome
• Just a single gene is involved
• Mutations in the gene lead to a wide array of
phenotypes

© 2017 Pearson Education, Ltd.


Are All Traits Determined by a Gene?

• Mendel controlled the environment of his plants


• To be sure that it did not affect phenotype
• For example, even plants with the T allele will be
short if they are deprived of nutrients
• Most phenotypes are strongly influenced by the
environment as well as by genotypes
• The combined effect of genes and environment is
referred to as gene-by-environment interaction

© 2017 Pearson Education, Ltd.


The Environment Affects Genes

• The human genetic disease phenylketonuria (PKU)


is an example of a gene-by-environment interaction
• Individuals with PKU are homozygous recessive for
a gene that codes for an enzyme
• Enzyme converts phenylalanine to tyrosine
• Enzyme is absent in individuals with PKU
• Phenylalanine accumulates and produces severe
mental retardation
• Individuals placed on a low-phenylalanine diet
develop normally
© 2017 Pearson Education, Ltd.
Different Genes Can Work Together to Affect
One Phenotype
• The expression of many genes
• Depends on the presence or absence of other genes
• Two or more genes work together to control a single
trait
• For example, comb shape in chickens
• Controlled by two genes (R and P)
• The R allele is expressed differently depending on
which allele of P is present

© 2017 Pearson Education, Ltd.


Figure 14.18
(a) Crosses between chickens with different comb
phenotypes give odd results.
Rose comb Pea comb

Parental
generation

All walnut combs

New comb
F1
phenotype

Another new
comb phenotype

: : :
Walnut combs Rose combs Pea combs Single combs

F2

(b) A genetic model based on gene–gene interaction


can explain the results.
Parental Rose comb Pea comb
generation

F1 All walnut combs


Dashes in a genotype Two genes (R and P)
mean that either allele interact to produce
can be present comb phenotype

F2
Walnut comb Rose comb Pea comb Single comb
© 2017 Pearson Education, Ltd.
Can Mendel’s Principles Explain Traits That
Don’t Fall into Distinct Categories?
• Mendel worked with discrete traits
• Characteristics that are clearly different
• For example, pea seeds are either yellow or green;
no intermediate phenotypes exist
• Traits that vary continuously are called quantitative
traits
• For example, human height or skin color
• Plots of quantitative traits often form a bell-shaped
curve, or normal distribution

© 2017 Pearson Education, Ltd.


Figure 14.19

Actual distribution
approximates a
bell-shaped curve

Nu

Height (cm)

© 2017 Pearson Education, Ltd.


Can Mendel’s Principles Explain Traits That
Don’t Fall into Distinct Categories?
• Nilsson-Ehle used wheat to explain quantitative
traits
• The kernel color exhibited a normal distribution of
color between white and dark red
• He proposed that
• Quantitative traits result from the action of many
genes
• Called polygenic inheritance
• Each gene adds a small amount to the value of the
phenotype
© 2017 Pearson Education, Ltd.
Figure 14.20

(a) Wheat kernel color is a quantitative trait. (b) Hypothesis to explain inheritance of kernel color

Parental
generation (pure-line white) × (pure-line red)

F1
generation (medium red)

Self-fertilization

F2
generation
individuals
Number of

Increasing redness
Kernel color Number of red pigment alleles (A, B, or C) in genotype

© 2017 Pearson Education, Ltd.


Table 14.4

© 2017 Pearson Education, Ltd.


Applying Mendel’s Rules to Human Inheritance

• Cannot make experimental crosses in humans


• Mode of transmission describes a trait as
autosomal or sex-linked and the type of dominance
• Pedigrees, or family trees, are used to learn the
mode of transmission for a given trait
• If a single gene causes the trait
• Pedigree may reveal whether a phenotype is due to a
dominant or recessive allele
• And whether it is on a sex chromosome or autosome

© 2017 Pearson Education, Ltd.


Autosomal Recessive Traits

• If a phenotype is due to an autosomal recessive


allele
• Individuals with the trait must be homozygous
• Unaffected parents of an affected individual
• Are likely to be heterozygous for the trait
• Carriers are heterozygous individuals who do not
have a disease but carry a recessive allele for it
• A recessive phenotype shows up in offspring only
when both parents have that recessive allele
• Example: sickle cell disease
© 2017 Pearson Education, Ltd.
Figure 14.21a
(a) Autosomal recessive trait (e.g., sickle-cell disease)

I Carrier male Carrier female


Each row represents
a generation

II Affected
male

Affected
III female

• Males and females are equally likely to be affected


• Affected offspring often have unaffected parents
• Unaffected parents of affected offspring are heterozygous (carriers)
• Affected offspring are homozygous
• If both parents are heterozygous, about ¼ of the offspring
will be affected
• Trait often skips generations
© 2017 Pearson Education, Ltd.
Autosomal Dominant Traits

• If a trait is autosomal dominant


• Homozygous or heterozygous individuals will display
the trait
• One heterozygous parent will pass it on to about half
of his/or her offspring
• Any child with the trait must have a parent with the
trait
• Example: Huntington disease

© 2017 Pearson Education, Ltd.


Figure 14.21b
(b) Autosomal dominant trait (e.g., Huntington disease)

I Affected female Unaffected male

II

III

• Males and females are equally likely to be affected


• Affected offspring have at least one affected parent
• Affected offspring are heterozygous if only one parent is affected
• Unaffected offspring are homozygous recessive
• If one parent is heterozygous, about ½ of the offspring
will be affected
• Trait does not skip generations

© 2017 Pearson Education, Ltd.


Identifying Traits as Autosomal or Sex-Linked

• If a trait appears equally often in males and females


• It is likely to be autosomal
• If males express the trait more often
• It is usually X-linked

© 2017 Pearson Education, Ltd.


X-Linked Recessive Traits

• X-linked recessive traits are common


• Men (XY) will exhibit the trait if they inherit it from
their mothers
• Women (XX) will exhibit the trait only if they are
homozygous
• Usually skips a generation
• An affected male can pass it only to his daughters
• Daughters will pass the allele to about half their sons

• Example: red-green color blindness

© 2017 Pearson Education, Ltd.


Figure 14.22

(a) X-linked recessive trait (e.g., red–green color blindness) (b) X-linked dominant trait (e.g., hypophosphatemia)
I Affected male Unaffected female I Affected male Unaffected female
Each row represents
a generation

II Carrier Carrier II
female female

III III

• Males are affected more frequently than females • Males and females are equally likely to be affected
• Trait is never passed from father to son • All daughters of an affected father are affected, but no sons
• Affected sons are usually born to carrier mothers • Affected sons always have affected mothers
• About ½ of the sons of a carrier mother will be affected • About ½ of the offspring of an affected mother will be affected
• All daughters of an affected male and an unaffected non-carrier • Affected daughters can have an affected mother or father
female are carriers • Trait does not skip generations
• Trait often skips generations

© 2017 Pearson Education, Ltd.


X-Linked Dominant Traits

• X-linked dominant traits are rare


• An affected male passes the trait to all his daughters
but none of his sons
• Daughters receive his only X chromosome
• A female carrier will pass the trait to half her
daughters and half her sons
• Both genders receive one of her X chromosomes

• Example: hypophosphatemia (vitamin D-resistant


rickets)

© 2017 Pearson Education, Ltd.


Figure 14.22b
(b) X-linked dominant trait (e.g., hypophosphatemia)

I Affected male Unaffected female

II

III

• Males and females are equally likely to be affected


• All daughters of an affected father are affected, but no sons
• Affected sons always have affected mothers
• About ½ of the offspring of an affected mother will be affected
• Affected daughters can have an affected mother or father
• Trait does not skip generations
© 2017 Pearson Education, Ltd.
Y-Linked Traits

• Inheritance of Y-linked traits could be predicted


• However, very few genes are on the Y chromosome
• Involved with male sexual development
• There are no other known human Y-linked traits

© 2017 Pearson Education, Ltd.

You might also like