Patterns of Inheritance

Chapter 12
 Early Ideas of Heredity
Before the 20th century, 2 concepts were the
basis for ideas about heredity:
-heredity occurs within species
-traits are transmitted directly from parent
to offspring
This led to the belief that inheritance is a
matter of blending traits from the parents.

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 Early Ideas of Heredity
Botanists in the 18th and 19th centuries
produced hybrid plants.
When the hybrids were crossed with each
other, some of the offspring resembled the
original strains, rather than the hybrid
strains.
This evidence contradicted the idea that
traits are directly passed from parent to
offspring.
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 Early Ideas of Heredity
Gregor Mendel
-chose to study pea plants because:
1. other research showed that pea hybrids
could be produced
2. many pea varieties were available
3. peas are small plants and easy to grow
4. peas can self-fertilize or be cross-
fertilized
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 Early Ideas of Heredity
Mendel’s experimental method:
1. produce true-breeding strains for each
trait he was studying
2. cross-fertilize true-breeding strains having
alternate forms of a trait
-perform reciprocal crosses as well
3. allow the hybrid offspring to self-fertilize
and count the number of offspring showing
each form of the trait
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 Gregor Mendel
• The Father of Genetics. 1850’s
He worked with pea plants and noticed that if he
crossed peas with different characteristics that
some would be passed on to the next generation.
• *Used true breeding plants
• that would only produce a
• certain trait such as color
• He did not know how this
• happens only that it did.
• Did not know about alleles,
• genes or chromosomes
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 Monohybrid Crosses
Monohybrid cross: a cross to study only 2
variations of a single trait

Mendel produced true-breeding pea strains

for 7 different traits
-each trait had 2 alternate forms (variations)
-Mendel cross-fertilized the 2 true-breeding
strains for each trait
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 Monohybrid Crosses
F1 generation (1st filial generation):
offspring produced by crossing 2 true-
breeding strains
For every trait Mendel studied, all F1 plants
resembled only 1 parent
-no plants with characteristics intermediate
between the 2 parents were produced

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 Monohybrid Crosses
F1 generation: offspring resulting from a cross
of true-breeding parents
F2 generation: offspring resulting from the
self-fertilization of F1 plants

dominant: the form of each trait expressed in

the F1 plants
recessive: the form of the trait not seen in
the F1 plants
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 Monohybrid Crosses
F2 plants exhibited both forms of the trait in a
very specific pattern:
¾ plants with the dominant form
¼ plant with the recessive form
The dominant to recessive ratio was 3 : 1.
Mendel discovered the ratio is actually:
1 true-breeding dominant plant
2 not-true-breeding dominant plants
1 true-breeding recessive plant
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 Monohybrid Crosses
gene: information for a trait passed from
parent to offspring
alleles: alternate forms of a gene

homozygous: having 2 of the same allele

heterozygous: having 2 different alleles

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 Monohybrid Crosses
genotype: total set of alleles of an individual
PP = homozygous dominant
Pp = heterozygous
pp = homozygous recessive

phenotype: outward appearance of an

individual

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 Monohybrid Crosses
Some human traits are controlled by a single
gene.
-some of these exhibit dominant
inheritance
-some of these exhibit recessive
inheritance

Pedigree analysis is used to track

inheritance patterns in families.
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• TWO TYPES OF TRAITS: Some traits
may be expressed and others may not be
expressed at all.
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 Monohybrid Crosses
Law of Segregation

Two alleles for a gene segregate during

gamete formation and are rejoined at
random, one from each parent, during
fertilization.

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 Dihybrid Crosses
Dihybrid cross: examination of 2 separate
traits in a single cross
-for example: RR YY x rryy

The F1 generation of a dihybrid cross (RrYy)

shows only the dominant phenotypes for
each trait.

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 Dihybrid Crosses
The F2 generation is produced by crossing
members of the F1 generation with each
other or allowing self-fertilization of the F1.
-for example RrYy x RrYy

The F2 generation shows all four possible

phenotypes in a set ratio:
9:3:3:1
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 Dihybrid Crosses
Law of Independent Assortment
Two or more genes assort independently
during gamete formation.
In a dihybrid cross, the alleles of each pair of
alleles segregate independently of any
other pair of alleles.

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 Probability – Predicting Results
Rule of addition: the probability of 2
mutually exclusive events occurring
simultaneously is the sum of their
individual probabilities.
When crossing Pp x Pp, the probability of
producing Pp offspring is
probability of obtaining Pp (1/4), PLUS
probability of obtaining pP (1/4)
¼ + ¼ = ½
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 Probability – Predicting Results
Rule of multiplication: the probability of 2
independent events occurring
simultaneously is the PRODUCT of their
individual probabilities.
When crossing Rr Yy x RrYy, the probability
of obtaining rr yy offspring is:
probability of obtaiing rr = ¼
probability of obtaining yy = ¼
probability of rr yy = ¼ x ¼ = 1/16
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 Testcross
Testcross: a cross used to determine the
genotype of an individual with dominant
phenotype
-cross the individual with unknown genotype
(e.g. P_) with a homozygous recessive (pp)
-the phenotypic ratios among offspring are
different, depending on the genotype of the
unknown parent
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 Extensions to Mendel
Pleiotropy refers to an allele which has
more than one effect on the phenotype.

This can be seen in human diseases such

as cystic fibrosis or sickle cell anemia.
In these diseases, multiple symptoms can
be traced back to one defective allele.

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 Extensions to Mendel
Incomplete dominance: the heterozygote
is intermediate in phenotype between the
2 homozygotes.

Codominance: the heterozygote shows

some aspect of the phenotypes of both
homozygotes.

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Purebred red snapdragons were crossed with
purebred white snapdragons all offspring were pink
Incomplete dominance: the
heterozygote is intermediate in
phenotype between the 2
homozygotes.
Red crossed with white makes
pink.
Incomplete Dominance
In humans, straight hair and curly hair are
incompletely dominant traits that result in hybrids
that have wavy hair.
Cross a straight hair with a wavy hair.
What are the chances of having a curly haired child?
What are the chances of having a straight hair child?

1. Go over Incomplete/codominance wkst

2. Sex linked traits
 Co- dominacnce
Co-dominance: the
heterozygote shows
some aspect of the
phenotypes of both
homozygotes.
Black crossed with
white makes gray.
 Codominance
The human ABO blood group system
demonstrates:
-multiple alleles: there are 3 alleles of the I
gene (IA, IB, and i)
-Co-dominance: IA and IB are dominant to i
but codominant to each other

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• Three alleles are possible at one single gene
locus IA, IB, and i.
• The enzyme produced by these alleles either
adds or does not add a sugar molecule to a
protein found in the membrane of the red
blood cells.
• IA alleles add galactosamine, IB adds
galactose, and i does not add any sugar.
These Protein /Sugar complex act as an
antigen .
• Each has two alleles, so Blood type A
could be ( IA IA or IA i), Type B ( IB IB or IB i),
Type AB ( IA IB)
• Type O (i i )
• The immune system is tolerant to its own
antigens but makes antibodies to those
that differ. This causes agglutination or
clumping of and lysis of foreign red blood
cells.
• If Blood type A receives type B blood than it is
recognizes as foreign and attacked causing them
to clump. Same is true if B or AB types are
transfused.
• If either of these Blood types is given a transfusion
with type O blood than there are no antigens so
the O blood will be tolerated. That is why Type O
blood is known as the Universal Donor.
• Because Blood type AB has both antigens ,neither
will be foreign, so these patients may receive
blood from any of the blood groups. AB then is
known as the universal recipient.
• Other Antibodies are; IgM, Rh, and IgG
antibodies.
• IgM work on foreign blood antigens such as
carbohydrates on bacteria, even if these
carbohydrates are found in our cellular makeup.
But they do not act on the carbohydrates that
make up the cell.
• Rh Factor or Rh antigen : The protein is either
present, Rh positive or absent, Rh negative on the
surface of RBC. A Rh neg. person who receives a
Rh pos. transfusion produces antibodies to the
foreign antibodies.
 Blood Types
• A,B,O blood types
• A and B are dominant over O
– Co-dominant to each other
• O blood type is recessive
RESULTING
GENOTYPE
PHENOTYPES
IA IA
Type A
IA i
Type A
IBIB Type B
IBi Type B
IA IB Type AB
ii Type O
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 Extensions to Mendel
The expression of some genes can be
influenced by the environment.

for example: coat color in Himalayan rabbits

and Siamese cats
-an allele produces an enzyme that allows
pigment production only at temperatures
below 30oC
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Extensions to Mendel

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 Extensions to Mendel
Mendel’s model of inheritance assumes that:
-each trait is controlled by a single gene
-each gene has only 2 alleles
-there is a clear dominant-recessive
relationship between the alleles

Most genes do not meet these criteria.

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 Extensions to Mendel
One Gene affects the phenotype of another
gene, because their products interact .
Epistasis: one gene can interfere with the
expression of another gene
Labrodor Retrievers: B or b is for fur color and
E or e is for if it will be deposited.
BBEE; BBEe; BbEe will be a black lab.
bbEE or bbEe will be a chocholate lab
BBee: Bbee; bbee; will all be a yellow lab. (Key ee)
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 Epistasis
• Epistasis – one allele hides/suppresses another
allele
 Extensions to Mendel
Polygenic inheritance occurs when
multiple genes are involved in controlling
the phenotype of a trait.
The phenotype is an accumulation of
contributions by multiple genes.
For example – human height
700 genetic variations with over 180 genes
Skin Pigment:
https://www.sciencedaily.com/releases/2017/10/171012143324.htm

These traits show continuous variation

and are referred to as quantitative traits.
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 Polygenic
• Phenotype depends on alleles in multiple
genes
– Skin color, height, eye color
– Continuous progression in expression of traits
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 Another example of a polygenic trait:

• Hair Color
– Hair color is controlled by alleles on
chromosomes 3, 6, 10, and 18.
– The more dominant alleles that appear in the
genotype, the darker the hair!
 Sex Determination
• Thomas Hunt Morgan – studied fruit
flies in the early 1900’s; Columbia
University.
• Proved meiosis works in animals.
 Sex Determination

• Observed that one pair of chromosomes

was different between males and females

– Large one named “X” chromosome

– Smaller one named “Y” chromosome

– XX = female; XY = male
 Sex Chromosomes
In many organisms, the Y chromosome is
greatly reduced or inactive.
genes on the X chromosome are present in
only 1 copy in males
sex-linked traits: controlled by genes
present on the X chromosome
Sex-linked traits show inheritance patterns
different than those of genes on
autosomes.
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 Sex Linkage
• Sex Linkage: the presence of a gene
on a sex chromosome (X or Y)

• X-linked genes: genes found on the X

chromosome
– X chromosome carries more genes

• Y-linked genes: genes found on the Y

chromosome
 Fruit Fly Eye Color

• Fruit flies normally have red eyes

– Red is dominant; white is recessive

• A few males have white eyes

 Morgan’s Fruit Fly
Experiments
• Red-eyed female (XRXR) x White-eyed male
(XrY)

XR XR
XRXr XRXr RESULTS:

Xr F1 generation – all
red-eyed

XRY XRY
Y
 Morgan’s Conclusions

• Gene for eye color is carried on the X

chromosome = eye color is an X-linked
trait

• Y chromosome does not carry a gene for eye

color

• Red-eyed = XRXR, XRXr , XRY

• White-eyed = XrXr, XrY
In fruit flies red eye color (R) is dominant to
white eyes (r) and is a sex linked trait.
A heterozygous red eye female mates with a
red eye male.
1.How many will have red eyes?
2.What percent will have white eyes?
3.How many will be female and red eyed?
In humans colorblindness (b) is an example
of a sex-linked recessive trait. A male with
colorblindness marries a female who isn’t
colorblind and does not carry the allele.
What is the chance they will have a child
that is colorblind?
 Sex Chromosomes and Barr
Bodies
• Barr Body: Two X Chromosomes are
found in every cell of a mammalian
females.
• One will become inactive in each cell of
the body. Either from The male or female
parent.
• The inactivation of X chromosome is random in each
embryonic cell. (Father or Mother lineage.) Giving a
mosaic of traits. Each cell will divide through mitosis.
• Ex. Patchy coloration in female tortoise shelled collored
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cats, and females with patchy sweat glands.
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 Human Genetic Disorders
• Muscular Dystrophy: Sex linked.

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 Huntington Disease
• 3-7 per 100,000 people of European Ancestry.
• Less common in Japanese Chinese or African
ancestry.
• Autosomal Dominant disorder only need one
copy of the gene. Mutation in the HIT gene.
• Degeneration of the nerves in the Brain.
• Causes jerking, Twitching, pycheatric
problems, etc.
• No cure.
 Sickle-Cell Anemia
• About 1 in 12 African
Americans and 1-100
Hispanic Americans are
carriers.
• Mutation of the Hemoglobin
Beta gene on Chromosome
11. Mutant Red Blood Cells.
• The damaged gene causes
the cells to stick together and
to become stiff.
• Cells clump together and
damage organs of the body.
• These cell die fast and the
bone marrow cannot produce
enough RBC.
• Only cure is bone marrow
transplants.
 Hemophilia
• 1 in 5000 male births. 1/3 of the births
happen to families with no history.
• Sex-linked = X linked
• This is a bleeding disorder, where the
affected people cannot clot the blood.
• Treatment is that patients are given
injections of the clotting factors
 Muscular Dystrophy
• Disorder where the body fails to produce
Dystrophin, which allows the muscle to
grow and function.
• Sex Linked.
• Develop symptoms by are 2-3 and are in a
wheel chair by age 12.
• 9 different forms of MD. All have different
times of onset.
• No Treatment for any form.
 Tay Sachs
• Autosomal Recessive: Mutation in the HEXA
Gene.
• Destroys the neurons in the brain and spinal
chord.
• Child appears normal until the ages of 3-6
months.
• Loss of muscle control and child loses ability to
roll over, sitting and crawling. Sight and Hearing
problems.
• Prevalent in people of Eastern European Jews,
Amish, Cajun, and French Canadian
communities.
• No Cure.
 Cystic Fibrosis
• Autosomal Recessive Disorder
• Inherited disease of the secretory gland
that make mucus and sweat. Individuals
produce a very thick mucus.
• May effect the Lungs, skin, pancreas, liver,
and intestines.
• Recessive
• Affects the lungs, pancreas, liver, and intestine
• Characterized by
– accumulation of thick, sticky mucus
– coughing or shortness of breath
– poor growth and weight gain
– frequent chest infections
– Salty skin

https://www.youtube.com/user/CysticFibros
isUSA
 PKU
Phenylketonuria
• Autosomal Recessive Disorder of Metabolism.
• Caused by Phenalalenine build up. Can’t breakit
down.
• Women who have high levels of phenylalanine
during pregnancy are at high risk for having babies
born with mental handicapps, heart problems, small
head size (microcephaly) and developmental delay.
This is because the babies are exposed to their
mother's very high levels of phenylalanine before
they are born.
 Albinism
• Recessive
• defect of melanin production
• results in little or no color in the skin, hair,
and eyes
Achondroplasia
• common cause of dwarfism
• Sporadic mutation in
approximately 75% of cases
(associated with advanced
paternal age)
• Or dominant genetic disorder
• Unlikely homozygous child will
live past a few months of its life
 Human Genetic Disorders
Genetic counseling can use pedigree
analysis to determine the probability of
genetic disorders in the offspring.
Some genetic disorders can be diagnosed
during pregnancy.
amniocentesis collects fetal cells from the
amniotic fluid for examination
chorionic villi sampling collects cells from
the placenta for examination
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 Amniocentesis

Amniotic fluid withdrawn

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 How is genetic testing done?
• blood, hair, skin, amniotic fluid, or other tissue
• Look for changes in chromosomes, DNA,
proteins
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 Sex Chromosomes
• SRY Gene

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