Genetics

HEREDITY: the way animals and plants pass traits onto their
offspring
Eye color, hair color, height, body build, blood types,
intelligence, gender, etc
GENETICS: the science of heredity
 GREGOR MENDEL
Austrian monk, born in 1822

Bred pea plants to investigate heredity

Collected data on flower color, pea pod color, height of plants, etc.

Terminology:
First filial (F1) generation: the first generation of offspring created when two plants were
cross-pollinated (Children)

Second filial (F2) generation: the offspring created when two of the F1 plants were cross-
pollinated (Grandchildren)
 Mendelian genetics
2Dominant
plants withTrait: the characteristic
different traits crossed that
could be seen in F1 generation that
F1 generation
seemed onlythe
to dominate showed
other1 of the
traits. The others seemed to
Recessive Trait: the characteristic that
disappear.
seemed to disappear in the F1
F1generation,
plants werebutcrossed, F2 showed
reappeared in the F2
generation
The trait from F1 in of the plants

The vanished trait in of the plants

Named these characteristics, which we

Mendel came up with 4 principles:
Principle of Unit Characteristics
An organisms characteristics are caused by GENES.

Principle of Dominance
In cases where 2 or more forms of a trait exist, some forms may be DOMINANT and some
may be RECESSIVE

Principle of Segregation
Each adult has 2 copies of each gene. These genes are segregated from each other when
sex cells (gametes) are formed.
Theory of independent assortment
 Cell: basic unit of all
living matter
Nucleus: contains DNA
Where are genes Chromosomes: 46 in
found? each nucleus (23 pairs)
Genes: bands on
chromosomes (there are
thousands of these)
How many chromosomes are there in each human body cell?

46 chromosomes (23 pairs)

How many chromosomes are in a gamete (sex cell)?
23 chromosomes

? ? ? ? ? ? ? ? ?
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 Genetics terminology
Phenotype: PHYSICAL expression of genes

Genotype: genetic makeup usually represented by letters

- Capital letters represent dominant alleles and
lowercase letters represent recessive alleles

Homozygous dominant: both alleles for a certain trait are dominant (SS)

Heterozygous: Both alleles for a certain trait are different (Ss)

Homozygous recessive: both alleles for a certain trait are recessive (ss).
The letter chosen for the trait is based on the dominant characteristic (R for round)

Dominant overshadows recessive, so both homozygous and heterozygous individuals will

show the dominant trait

Ex: Round seeds R are dominant over wrinkled seeds r. Therefore, RR individuals
will be found, and so will Rr individuals.

The only plants that will have wrinkled seeds are rr

Punnett Squares
Quick way to show how alleles will be
combined in the next generation
One parents alleles are written on the
top and the other parents alleles
are written on the side
Alleles are combined to show possible
offspring combinations
Punnett Square Example
A pea plant that is homozygous recessive for yellow
peas (yy) is crossed with a pea plant that is y y
heterozygous for yellow peas (Yy). What are the
possible offspring combinations?

Genotypes:
Y Yy Yy

Phenotypes (how they look): y yy yy

Complete Dominance/Mendelian Inheritance
The heredity we just learned about is called complete dominance.
This is what Mendel discovered.
When a dominant allele and a recessive allele are combined in a
heterozygous genotype, the phenotype will show the dominant trait
because the dominant trait overshadows the recessive trait.
Example: pea color
Incomplete Dominance
When traits are inherited through incomplete dominance, the phenotype of the heterozygote
is an intermediate between those of the two homozygotes.

Instead of capital and lowercase letters, here we use an apostrophe because one trait does
NOT overshadow another.

Example: In flowers called Japanese 4 oclocks, the flowers can be red (dominant), white
(recessive) or pink (intermediate)

RR = homozygous dominant (red)

RR = heterozygous (pink)

RR = homozygous recessive (white)

Codominance
In an individual with a heterozygous genotype, BOTH alleles are FULLY expressed.

Example: In roosters, some individuals have black feathers and some individuals have
white feathers. The heterozygous individuals have BOTH black AND white feathers.

BB=black

BW=black and white

WW=white
Multiple alleles
Any of a set of three or more alleles, or alternative states of a
gene, only 2 of which can be present in a diploid organism.
Multiple alleles can only be studied in POPULATIONS, because
each organism can still only have 2 alleles.
Multiple allele example: Human Blood Types
Human blood types exhibit multiple alleles. Each
individual has a combination of 2 alleles from the
following set: A, B, O

The alleles A & B are codominant and O is recessive.

A genotype of AA or AO exhibits blood type A

A genotype of BB or BO exhibits blood type B

A genotype of AB exhibits blood type AB

A genotype of OO exhibits blood type O

Sex-Linked Traits
Reminder: You have 23 pairs of chromosomes in your cells (46 total)

The 23rd pair of chromosomes is your sex chromosomes, the rest are
autosomal

Females have two X chromosomes & males have one X and one Y
chromosome

The mother always donates an X, the father determines the sex of the baby
by donating either an X or a Y 50%
 Sex-Linked Traits
Traits that are on the sex chromosomes are called sex-
linked traits

Most sex-linked traits are carried on the X chromosome

because it is larger

Examples of sex-linked traits:

Red-green color blindness

Male pattern baldness

Hemophilia (condition where blood does not clot)

Phenotypes for Sex-Linked Traits
XX=normal female
XtraitX=carrier female (doesnt show
trait)
XtraitXtrait=female shows trait
XY=normal male
Punnett Squares with Sex-Linked Traits
Lets try this cross: 25% XhXh
25% XhX
XhX with 25% XhY
XhY 25% XY
Xh X
Xh XhXh XhX 50% show trait
50% do not show trait
Y XhY XY
Pedigrees
Pedigree=a graphic representation of an individuals family
tree, which allows scientists to see inheritance patterns
Symbols:
Practice making a pedigree of your family,
beginning with one set of grandparents
 Polygenic Inheritance
Polygenic Traits: traits controlled by 2 or more genes

Poly=many, genic=genes

The genes may be on the same or different

chromosomes and may have 2 or more alleles

Wide range of phenotypes. All heterozygotes are

intermediate in phenotype

Examples: human skin color, human eye color

Environmental Influences
The internal and external environments of an organism can
affect how hereditary traits are expressed.
Internal factors= hormones, likelihood of contracting diseases
External factors= lifestyle (smoking, lifting weights, exposure
to sun, etc.)
Punnett Square Practice
Complete dominance: The tall trait in pea plants is dominant, and the short
trait is recessive. If a heterozygous tall pea plant is crossed with a short pea
plant, what offspring genotypes & phenotypes can you expect?
Genotypes: 50% Tt, 50% tt; Phenotypes: 50% tall, 50% short

Incomplete dominance: A red 4 oclock flower is crossed with a pink 4 oclock

flower. What offspring genotypes and phenotypes can you expect?
Genotypes: 50% RR, 50% RR; Phenotypes: 50% red, 50% pink
Punnett Square Practice
Codominance in Cows: black BB, white BB, and black & white spotted BB. Cross a
black & white cow with a white cow. Do a punnett square and give the genotype and
phenotype percentages.
Genotypes: 50% BB, 50% BB;

Phenotypes: 50% white, 50% black & white

Sex-Linked inheritance: Short wings in fruit flies is a sex-linked trait carried on the X
chromosome. Please cross a female that is a carrier for short wings with a normal
male & give genotype and phenotype percentages.
Genotypes: 25% XsX, 25% XX, 25% XsY, 25% XY

Phenotypes: 25% carrier, 25% normal female, 25% male with short wings, 25% normal male