Genetics

Similarity and variation

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The scientific study of
heredity began More
than a century ago with
the Work of an Austrian
monk named Gregor
Mendel.

The passing of traits from parents To

offspring is called heredity.

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Mendel’s initial experiments were
Monohybrid crosses.
A monohybrid cross is a cross that
Involves 1 pair of contrasting traits.
For example, crossing a purple
flower With a white flower plant to
see
What happens.

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Mendel’s pea experiments
focused On 7 traits that could be
Easily viewed and studied.
Flower color, seed color, Seed
shape, pod color, pod shape,
Flower position, and plant
height.

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Mendel carried out his experiments In 3
steps…
1) Mendel allowed each variety of Garden
pea to self-pollinate for Several
generations.

This method ensured that each Variety

was true-breeding for a Particular trait.
All the offspring Would display only 1
form of a Particular trait.

These true breeding plants served As the

parental generation in Mendel’s
Experiments. The parental generation (P6
2) Mendel then cross pollinated 2 P
Generation plants that had
contrasting Forms of a trait.
Mendel called the offspring of the P
generation the 1st filial generation,
Or the F1 generation.
He then examined each F1 plant
And recorded the number of F1
Plants expressing each trait.
3) Finally Mendel allowed the F1
Generation to self pollinate. He
Called the offspring of the F1
Generation the 2nd filial generation
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Mendel’s results did not support the
Blending hypothesis.
Mendel correctly concluded that
each Pea has 2 separate “heritable
factors”
For each trait, 1 from each parent.
Mendel came up with 4 hypotheses
That were directly based on The
results of his experiments.

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1) For each inherited trait, an
Individual has 2 copies of the
gene; One from each parent.
2) There are alternative versions
Of genes. Today the different
Versions of a gene are called
Alleles. Each allele can be
passed On when the individual
reproduces.

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 3) When two different alleles occur
together, one of them may be
completely expressed, while the other
may have no observable effect on the
organism’s appearance.

Mendel described the expressed form

of the trait as dominant. The trait
that was not expressed when the
dominant form of the trait was present
was described as recessive.
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4) When gametes are formed, the
alleles for each gene in an
individual separate independently
of one another.

Thus, gametes carry only one allele

for each inherited trait. When
gametes unite during fertilization,
each gamete contributes one allele.

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•Homozygous - If the two alleles of a particular
gene present in an individual are the same.
•Heterozygous - If the alleles of a particular
gene present in an individual are different.
•Dominant alleles are indicated by writing the
first letter of the trait as a capital letter.
•Recessive alleles are also indicated by writing
the first letter of the dominant trait, but the
letter is lowercase.
•In heterozygous individuals, only the dominant
allele is expressed; the recessive allele is
present but unexpressed.
•Genotype -The set of alleles that an individual
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The Laws of Heredity
Mendel’s 1st Law - The Law of Segregation

The first law, the law of segregation, states that the two
alleles for a trait segregate (separate) when gametes
are formed.
The first law of heredity describes the behavior of
chromosomes during meiosis
At this time, homologous chromosomes and then chromatids
are separated.

Mendel’s 2nd Law – Law of Independent

Assortment
Mendel found that for the traits he studied, the inheritance of
one trait did not influence the inheritance of any other trait.
The law of independent assortment states that the
alleles of different genes separate independently of one
another during gamete formation.
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One simple way of predicting the Expressed results (not
necessarily The actual results) of the genotypes Or phenotypes
in a cross is to Use a Punnett square.
A Punnett square is a diagram that predicts the
outcome of a genetic cross by considering all possible
combinations of gametes in the cross.
The possible gametes that one parent can produce are written
along the top of the square. The possible gametes that the
other parent can produce are written along the left side of the
square.
Each box inside the square is filled in with two letters obtained
by combining the allele along the top of the box with the allele
along the side of the box.
Punnett squares can be used to predict the outcome of a
monohybrid cross (a cross that considers one pair of contrasting
traits between two individuals).
Punnett squares allow direct and simple predictions to be made
about the outcomes of genetic crosses.

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 Variations on Mendel’s Laws
1. Incomplete Dominance
2. Codominance
3. Multiple Alleles
4. Pleiotropy
5. Epistasis
6. Polygenic Inheritance
7. Environmental Effects

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 Red
White
CRCR
CW CW

Parent
generation

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P Generation
Red White
CRCR CW CW

Gametes
CR CW

Pink
F1 Generation CRCW

Gametes
/2 /2 C
1 W
1
CR

Sperm
1
/2 CR / 2 CW
1

F2 Generation
/ 2 CR
1

CR
Eggs

1
/2 CW CRCR CR CW
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 Allele Carbohydrate
IA A
IB B
i none
(a) The three alleles for the ABO blood groups
and their associated carbohydrates

Red blood cell Phenotype

Genotype appearance (blood group)

IAIA or IA i A

IBIB or IB i
B

IA IB AB

ii O
(b) Blood group genotypes and phenotypes
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 Pleiotropy

Sickle cells

5,555×
Clumping of cells
Breakdown of Accumulation of
and clogging of
red blood cells sickled cells in spleen
small blood vessels

Physical Heart Pain and Brain Damage to Spleen

Anemia
weakness failure fever damage other organs damage

Impaired Pneumonia Kidney

mental Paralysis and other Rheumatism
failure
function infections

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Epistasis

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Polygenic Inheritance

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Environmental Effects

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Pedigree
Scientists cannot control matings in humans
So, they must gather as much information about a
family history
They organize it onto a family tree called a
pedigree

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 Inheritance of Traits
Geneticists often prepare a pedigree, a family history that
shows how a trait is inherited over several generations.
Pedigrees are particularly helpful if the trait is a genetic disorder
and the family members want to know if they are carriers or if their
children might get the disorder.
Scientists can determine several pieces of genetic information from
a pedigree

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Autosomal or Sex-Linked? If a trait is autosomal, it will appear in
both sexes equally. If a trait is sex-linked, it is usually seen only in
males. A sex-linked trait is a trait whose allele is located on
the X chromosome.
Dominant or Recessive? If the trait is autosomal dominant, every
individual with the trait will have a parent with the trait. If the trait is
recessive, an individual with the trait can have one, two, or neither
parent exhibit the trait.
Scientists can determine several pieces of genetic information from
a pedigree:
Heterozygous or Homozygous? If individuals with autosomal traits
are homozygous dominant or heterozygous, their phenotype will
show the dominant characteristic. If individuals are homozygous
recessive, their phenotype will show the recessive characteristic.

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 Complex patterns of heredity
Most traits are not controlled by Simple dominant-recessive
alleles.

Characters influenced by several genes

When several genes influence a trait, the trait is said to be a polygenic
trait.
The genes for a polygenic trait may be scattered along the same
chromosome or located on different chromosomes.
Familiar examples of polygenic traits in humans include eye color,
height, weight, and hair and skin color.

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Intermediate characters
In some organisms, however, an individual displays a trait that is
intermediate between the two parents, a condition known as incomplete
dominance
For example, when a snapdragon with red flowers is crossed with a
snapdragon with white flowers, a snapdragon with pink flowers is
produced.

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Characters controlled by genes with 3 or
more alleles
Genes with three or more alleles are said to have multiple alleles
Even for traits controlled by genes with multiple alleles, an individual
can have only two of the possible alleles for that gene.
Characters with two forms displayed at the same time:
For some traits, two dominant alleles are expressed at the same time.
In this case, both forms of the trait are displayed, a phenomenon called
codominance.
Codominance is different from incomplete dominance because both
traits are displayed.

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Characters influenced by environment
An individual’s phenotype often depends on conditions in the
environment
Because identical twins have identical genes, they are often used to
study environmental influences
Because identical twins are genetically identical, any differences
between them are attributed to environmental influences

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