Principles of Genetics

Traits
• Genetics – study of how traits are passed from parent
to offspring
• Traits are determined by the genes on the
chromosomes. A gene is a segment of DNA that
determines a trait.
• Chromosomes come in homologous pairs, thus genes
come in pairs.
Homologous pairs – matching genes – one from female
parent and one from male parent
• Example: Humans have 46 chromosomes or 23 pairs.
One set from dad – 23 in sperm
One set from mom – 23 in egg
• One pair of Homologous Chromosomes:

Gene for eye color

(blue eyes)

Homologous pair
of chromosomes

Gene for eye color

(brown eyes)

Alleles – different genes (possibilities) for the same trait –

ex: blue eyes or brown eyes
Dominant and Recessive Genes
• Gene that prevents the other gene from “showing” –
dominant
• Gene that does NOT “show” even though it is present –
recessive
• Symbol – Dominant gene – upper case letter – T
Recessive gene – lower case letter – t

Recessive
Dominant
color
color
Example: Straight thumb is dominant to hitchhiker thumb
T = straight thumb t = hitchhikers thumb

(Always use the same letter for the same alleles—

No S = straight, h = hitchhiker’s)

Straight thumb = TT
Straight thumb = Tt
Hitchhikers thumb = tt * Must have 2 recessive alleles
for a recessive trait to “show”
• Both genes of a pair are the same –
homozygous or purebred
TT – homozygous dominant
tt – homozygous recessive

• One dominant and one recessive gene –

heterozygous or hybrid
Tt – heterozygous

BB – Black
Bb – Black w/ bb – White
white gene
Genotype and Phenotype
• Combination of genes an organism has (actual gene
makeup) – genotype
Ex: TT, Tt, tt
• Physical appearance resulting from gene make-up –
phenotype
Ex: hitchhiker’s thumb or straight thumb
 Bb
Homozygous Homozygous
BB bb
Dominant Recessive

Always Only expressed if 2

expressed copies
CAPITAL lowercase letter
LETTER
1 ． Widow’s Peak

The gene contains 2 alleles: one for

straight hairline, which is recessive and the
other for widow’s peak, which is
dominant.
2 ． Bent Pinkie

If you are able to bend your 5th

finger (pinkie) inwards towards the
4th finger, it means you have the
dominant version of the gene
responsible for the distal segment
of the finger to bend.
Naturally clasp your hands
interlocking your fingers and
thumbs .........
3 ． Crossing of Thumbs

When you are interlocking your fingers, observe your thumbs. If

your left thumb crosses your right thumb, this means you have
inherited one or two of the dominant allele. If your right thumb
crosses your left thumb, then you have a pair of the recessive genes.
4 ． Earlobe Attachment

People have their ear lobes either attached to the sides of

their heads or hanging free. Those with unattached
earlobes have the unattached earlobe gene as the dominant
gene and the attached earlobe as the recessive gene.
5 ． Tongue Rolling

If you are able to raise the sides of your tongue together, then
you have inherited the dominant gene. Those who are unable to
do this have the recessive tongue rolling gene.
Punnett Square and Probability
• Used to predict the possible gene makeup of offspring –
Punnett Square
• Example: Black fur (B) is dominant to white fur (b) in mice
1. Cross a heterozygous male with a homozygous recessive female.

Black fur (B) White fur (b)

Heterozygous Homozygous
male recessive female

White fur (b) White fur (b)

GREGOR MENDEL

• Raised on farm and understood the value of plant breeding.

• At 21, entered priesthood and studied plant breeding in a monastery in the Czech
Republic.
• Loved to read especially about natural sciences and was aware of Darwin’s findings.
• Studied the inheritance of traits in pea plants.

• Considered the FATHER OF GENETICS!!!!!

GREGOR MENDEL

• Studied traits that occur in distinct

forms.
• Developed true-breeding varieties
• When bred amongst themselves these plants
produced offspring identical to the parent
for that trait.

• Used mathematical analysis in his

studies.
DEFINITIONS

• Gametes: reproductive cells produced

by sexually reproducing organisms.
• Two types:
• male gametes = sperm
• In plants: contained in pollen
• Female gametes = eggs
• In plants: contained in ovules
• Ovules contained in carpels
MENDEL’S INTERPRETATIONS

• Modified to incorporate today’s vocabulary

• Genes: the hereditary information that determines a single trait
• Alleles: alternate forms of a gene
• When an organism inherits two identical alleles for a trait,
organism is said to be homozygous for the trait.
• When an organism inherits to different alleles for one trait, the
organism is called heterozygous for the trait.
WHY WERE ALL THE SEEDS IN THE F1
GENERATION ROUND?
• Dominant vs. Recessive Allele
• Dominant: an allele that is expressed whenever it is present
• Recessive: an allele that is masked whenever the dominant allele is present.

• Dominant and recessive alleles influence an organism’s phenotype

CAN YOU LOOK AT SOMEONE AND
DETERMINE THEIR GENOTYPE?
• Testcross is used to determine the genotype of an individual
• Testcross: crossing an organism with unknown genotype with one that is homozygous
recessive for the trait.
• Example:
• Plant that has round (R) seeds crossed with one that is homozygous recessive (rr) for
wrinkled seeds

R? x
rr
MENDEL’S LAWS

• Based on Mendel’s data, he formulated two laws:

• Law of Segregation: A parent contributes only one of its alleles for a trait to each
offspring.
• If parent is heterozygous for a trait, the particular allele donated to the offspring is
random.
MENDEL’S LAWS

• Law of Independent Assortment:

Alleles of one gene are passed to
offspring independently of the
alleles of other genes.
• Applies to the inheritance of two or
more genes simultaneously.
1. Law of Dominance:
- In a cross of parents that are pure for
contrasting traits, only one form of the
trait will appear in the next generation.
- Offspring that are hybrid for a trait will
have only the dominant trait in the phenotype.

2. Law of Segregations:
- During the formation of gametes (eggs or sperm), the two alleles (hereditary units)
responsible for a trait separate from each other.
- Alleles for a trait are then "recombined" at fertilization, producing the genotype for the
traits of the offspring.

3. Law of Independent Assortment:

- Alleles for different traits are distributed to sex cells (& offspring) independently of one
another.
DIHYBRID CROSS

• Used when looking at inheritance patterns of 2 genes on different

chromosomes
• Independent assortment will separate the 2 homologous chromosomes
independently from each other
• Because of this, you must find the probability that each allele on each
chromosome will combine with the other alleles
HOW?

• Lets cross 2 hybrid tall hybrid green peas with each other.
• Determine the genotype of these seeds
THE PUNNET SQUARE
Male T t Gametes contain
female
half the genes,
so at the
T top/sides of the
punnet square,
we show the
possible
gametes we can
t produce

Some people can roll their tongue. This is a dominant

trait (T) Let’s imagine that we cross two people who
are heterozygous. We can show the phenotypic ratio
of traits in the offspring (F1 generation) using a
punnet square.
THE PUNNET SQUARE
T t

T TT

Some people can roll their tongue. This is a dominant

trait (T) Let’s imagine that we cross two people who
are heterozygous. We can show the phenotypic ratio
of traits in the offspring (F1 generation) using a
punnet square.
THE PUNNET SQUARE
T t

T TT Tt

Some people can roll their tongue. This is a dominant

trait (T) Let’s imagine that we cross two people who
are heterozygous. We can show the phenotypic ratio
of traits in the offspring (F1 generation) using a
punnet square.
THE PUNNET SQUARE
T t

T TT Tt

t Tt

Some people can roll their tongue. This is a dominant

trait (T) Let’s imagine that we cross two people who
are heterozygous. We can show the phenotypic ratio
of traits in the offspring (F1 generation) using a
punnet square.
THE PUNNET SQUARE
T t

T TT Tt

t Tt tt

Some people can roll their tongue. This is a dominant

trait (T) Let’s imagine that we cross two people who
are heterozygous. We can show the phenotypic ratio
of traits in the offspring (F1 generation) using a
punnet square.
DO MENDEL’S LAWS ALWAYS APPLY?
INCOMPLETE DOMINANCE

• A condition where all three

genotypes are expressed.
• Phenotypic level: contradicts
Mendel’s conclusions.
• Genotypic level: consistent with
Mendel’s laws.
LETHALITY

• A condition in which the

inheritance of a lethal combination
of alleles results in death of the
organism.
• Lucien Cuenot studied inheritance
of coat color in mice.
• Huntington’s disease.
PLEIOTROPY

• A single gene affects two or more

traits.

• Examples:
• One gene affects whether seed coat
is round/wrinkled
• Cat fur
Pedigrees are used to analyze
the pattern of inheritance of a
particular trait throughout a
family. Pedigrees show the
presence or absence of a trait
as it relates to the relationship
among parents, offspring, and
siblings.