Genetics and Inheritance

A Quick Review

 A gene is a section of DNA

that is transcribed and
translated into a single
protein
 Each chromosome has up
to 25,000 genes
 Humans have 46
chromosomes. (23
homologous from mom and
23 homologous from dad)
 Gregor Mendel

 A monk who began studying pea plants in 1843

 Discovered and described the basic principles of
heredity (how genes are passed from parents to
offspring)
Mmm… peas….
 Mendel’s Experiments
P1
 Mendel started fertilizing pea
plants by hand
 He realized that if he bred a “tall” X
plant with another “tall” plant that
the offspring would all be tall.
 Parents called P1 generation
 Offspring called F1 (fillial)
F1
 He called the parents “purebreds”
as they produced offspring that
looked exactly like them
 Studied seed shape, plant height,
pod color, flower color…
 Mendel’s Experiments

 He then bred pure plants with X

different characteristics (green
pod plant with yellow pod plant)
and the offspring (F1) all turned F1
out green!
 Where did the yellow pods go?
 He called these offpsring hybrids
(offspring produced by breeding two
different pure lines)
 He then bred these F1 plants to
produce an F2 generation F2
 ¼ of the F2 generation plants had yellow
pods and ¾ had green pods. What gives?
 Clearly he thought something
strange was going on…
 Mendel’s Hypothesis

 Mendel then hypothesized that there are two

possibilities for each trait (green or yellow pods)
 He called the green pods a dominant trait because it was a
more powerful trait that showed up more often
 He called the yellow pods a recessive trait because it
sometimes disappeared and showed up less often
 He then realized that if an offspring had one
dominant (green) and one recessive trait (yellow),
the dominant trait would show up (green pods)
 If the offspring had two recessive traits, the recessive
trait would show up (yellow pods)
 Mendel’s Hypothesis

 He did the same

experiment except with
plants that had purple
and white flowers and
saw the same pattern!
 Purple = dominant
 White = recessive
 Because the dominant
(purple) trait always
covered up the recessive
(white) trait he called
this complete
dominance
 Stop, Pause and Think!

 Think about the following…

1)What are sections of DNA that contain heredity
information ?

2) How does a purebred differ from a hybrid?

3)In a cross that displays completed dominance, if

an offspring carries 1 dominant factor and 1
recessive factor, which trait will the offspring have?
 Stop, Pause and Think!

1)What are sections of DNA that contain heredity

information ?
genes
2) How does a purebred differ from a hybrid?
A purebred the offspring always has the same traits as
the parent
A hybrid is the result of breeding two different
purebreds.
3)In a cross that displays completed dominance, if an
offspring carries 1 dominant factor and 1 recessive factor,
which trait will the offspring have?
The dominant trait
 Stop, Pause and Think!

You should be able to define the following

(Write down in notebook)
1) Gene
2) Purebred
3) Hybrid
4) Complete dominance
5) Dominant trait
6) Recessive trait
 Principal of Segregation

 Each chromosome has 2 copies

of a gene or trait (one on each
chromatid)
 These two chromatids separate,
or segregate during meiosis
when gametes are formed
 Each parent contributes one of
its copies of a trait to its
offspring
 The chances of contributing
either factor are equal (50/50)
 Alleles

 We now know that the units of heredity

are genes, and the different forms of
the genes are called alleles
 If the offspring has two dominant Green + Green =
alleles, the offspring will appear to
show the dominant trait
 If the offspring has one dominant allele Green + Yellow =
and one recessive allele, the offspring
will show the dominant trait
 If the offspring has two recessive Yellow + Yellow =
alleles, the offspring will show the
negative trait
 Alleles

Each individual carries one copy of a gene (allele)

from their mother and one copy of a gene (allele)
from their father

Chromosome #3
from mother

Chromosome #3
from father
 Representing Genes and Alleles

 Scientists use abbreviations to show dominant and

recessive alleles

 They use the same letter for the dominant and

recessive allele for each trait
 Dominant allele is capitalized: Green pods (G)
 Recessive alleles are lower case: Yellow pods (g)
 Genotype vs Phenotype

 Genotype: which
copies of the gene
the organism has
 What the genes code
for

 Phenotype: which
trait does the
organism show
 What you see
 Determining Genotype

 If you know the phenotype can you determine the

genotype?
 If the pea plant has purple flowers: could have one dominant
and one recessive (Pp), or two dominant (PP) alleles
 If the pea plant has white flowers: must have two recessive
(pp) alleles
 If the organism has two of the same allele, the
organism is called homozygous
 PP = homozygous dominant
 pp = homozygous recessive
 If the organism as one of each allele, the organism is
called heterozygous (Pp)
 Punnett Squares

 A way to visualize test

crosses (breeding two
organisms)

 Can be used to determine

the probability of
genotypes and phenotypes
of offspring
 Punnett Squares

Now you try!

? ?

? ?
 Stop, Pause and Think!

 Think about the following…

1) What does the principle of segregation state?

2) What is an allele?

3)What is the difference between a genotype and a

phenotype?

4) Define homozygous and heterozygous.

 Stop, Pause and Think!

1) What does the principle of segregation state?

Members of each pair of genes separate when gametes are formed
2) What is an allele?
Different representations of a gene
3)What is the difference between a genotype and a phenotype?
Genotype is the representation of the alleles; ex: BB or bb
Phenotype is the physical representation of the trait; ex: Black or
white
4) Define homozygous and heterozygous.
Homozygous is when both alleles are the same: ex: BB or bb
Heterozygous is when you have one dominant and one recessive
allele; ex: Bb
 Stop, Pause and Think

On your vocabulary sheet define the following

1) Allele
2) Genotype
3) Phenotype
4) Homozygous
5) Heterozygous
• In your notes write down what the Principle of
Segregation States
 Incomplete Dominance

 In the pea plants Mendel studied, 1 allele was clearly

dominant over the other
 However, this is not always the case!

 Some alleles show incomplete dominance (blend

of traits instead of one or the other)
 Ex: red flowers and white flowers make pink flowers

 In incomplete dominance the phenotype of a

homozygous dominant individual will be different
than the phenotype of the heterozygous
individual
CRCR = CRCW= CWCW =
Demonstrating Incomplete Dominance
 Co-dominance

 Co-dominance occurs when

both alleles are visible in
the phenotype (but not
mixed like incomplete
dominance!)

 Ex: This Camellia flower is

not pink, instead its petals
have red and white parts
 Stop, Pause and Think!

 How could you tell the difference between an

organism and its offspring that show complete
dominance and an incomplete dominance?

 What is the difference between incomplete

dominance and co-dominance?
 Stop, Pause and Think!

 How could you tell the difference between an organism

and its offspring that show complete dominance and an
incomplete dominance?
Organisms with complete dominance will only show two
variations of a trait. Organisms with incomplete dominance
will show three variations of a trait (one mixed)
 What is the difference between incomplete dominance
and co-dominance?
Incomplete dominance is when two traits are mixed (red +
white = pink)
Co-Dominance is when two traits are both expressed (red +
white = part red and part white)
 Stop, Pause and Think!

On your vocabulary sheet define the following

1) Incomplete Dominance
2) Co-Dominance
 Multi-allele Systems

 Some traits are the result of more than 2 alleles at a

locus (location of an allele on a chromosome)
 Ex: ABO blood system
 IA = produces A antigen on blood cell
produces B anti-body in blood serum
 IB = produces B antigen on blood cell
produces A anti-body in blood serum
 i = produces no antigen on blood cell
produces both A and B anti-bodies in
blood serum
 IA and IB are co-dominant
 i is recessive
The ABO Blood System

Clots when
exposed
to B-
antigen

Clots when
exposed
to A-
antigen

Does not
clot when
exposed to
antigens
Clots when
exposed
to A or B-
antigens
 Law of Independent Assortment

 Mendel showed that dominant traits do not always

show up together (don’t always see green pods and
purple flowers in the same plant)
 Law of Independent Assortment: 2 or more
pairs of alleles separate independently during the
formation of gametes
 Ex: equal chances of inheriting blonde hair allele/brown eyes allele
or blonde hair allele/blue eyes allele
 Traits are inherited separately from each other
 Sex Linkage

 Autosomal trait
o A gene carried on one of the 22 pairs of non-
sex
chromosomes
 Sex-linked trait
 A gene carried on one of the pairs of sex-
chromosomes
 If female XX if male XY
 If X chromosome codes for the allele, then
females will have 2 copies of the allele
and males will only have one copy
 Y-linked trait
 Only males (XY) will have a copy of the

allele
 Very rare in humans
 Showing Sex-Linkage

 Symbols are written as superscript of the sex

chromosome:
 Xa - X chromosome carrying the recessive allele
 XA - X chromosome carrying the dominant allele

 X - No superscript is used for the normal (wild

type)
allele

 If you see a different ratio of the trait in males and

females its probably a sex-linked trait!
 Pedigrees

 Pedigrees are used to determine mode of inheritance

when few individuals, but several generations are
involved
 Assume genetic trait discussed is rare, so individuals
marrying into the family are not assumed to carry the
trait
 Symbols:

female not affected male not affected

female affected male affected

female carrier male carrier

Pedigree Analysis
 Stop, Pause and Think!

On your vocabulary sheet define the following

1) Multi-allele system
 Polygenic Inheritance

 Most traits are not limited to two

possibilities (green or yellow)
 Most traits are a continuum
(many act together to determine
phenotype)
 Ex: height, skin color

 Polygenetic Inheritance: two

or more genes act additively on a
trait
 Stop, Pause and Think!

 Think about the following…

1)What is an example of a trait that is the result of
multi-allele systems?
2) Which blood type is homozygous recessive?
3)How would you be able to tell if a disease was a
sex linked trait by looking at a pedigree?
 Stop, Pause and Think!

1)What is an example of a trait that is the result of

multi-allele systems?
Blood type
2)Which blood type is homozygous recessive?
O blood
3)How would you be able to tell if a disease was a sex linked
trait by looking at a pedigree?
If the trait is present in a higher ratio in one sex when
compared to the other
 Stop, Pause and Think

On your vocabulary sheet define the following

1) Multi-allele system
2) Law of Independent Assortment
3) Autosomal trait
4) Sex-linked trait
5) Pedigree
6) Polygenic Inheritance
 Dihybrid Crosses

 Dihybrid cross involves the cross of two organisms

while looking at two different genes
 Can demonstrate independent assortment
 Cross organism with two homozygous dominant and
two homozygous recessive genotypes
 YYRR x yyrr can produce:
 YYRR and YyRr = yellow round
 YYrr = yellow wrinkled
 yyRR and yyRr = green round
 yyrr = green wrinkled
 Produces these genotypes in a 9:3:3:1 ratio
Diagramming a Dihybrid Cross
 How to do a Dihybrid Cross

 Lets cross two plants one with (R = red flowers) (T =

tall) RrTt and RrTt
 Draw out a 4 x 4 Punnentt square
 How to do a Dihybrid Cross

Crossing RrRrTt and RrTt

Start at the top and fill out the first allele of the top
line (R and r)
 How to do a Dihybrid Cross

Tt
Crossing RrTT tt and RrTt
Now do the same thing with the second alleles but
alternating (T and t)
R R r r
 How to do a Dihybrid Cross

 Crossing RrTt and RrTt

 Now do the same thing with the second set of alleles

RT Rt rT rt

RT

Rt

rT

rt
 How to do a Dihybrid Cross
 Crossing RrTt and RrTt
 Starting at the top fill out the first alleles on the whole
Punnett square
RT Rt rT rt
R R r r
RT

R R r r
Rt

R R r r

R R r r
rT

rt
 How to do a Dihybrid Cross

 Crossing RrTt and RrTt

 Do the same thing with the first allele on the vertical
axis
RT Rt rT rt
RR RR rR rR
RT

RR RR rR rR
Rt

Rr Rr rr rr

Rr Rr rr rr
rT

rt
 How to do a Dihybrid Cross

 Crossing RrTt and RrTt

 Starting at the top fill out the second allele on the
whole punnet square
RT Rt rT rt
RRT RRt rRT rRt
RT

RRT RRt rRT rRt

Rt

RrT Rrt rrT rrt

RrT Rrt rrT rrt

rT

rt
 How to do a Dihybrid Cross

 Crossing RrTt and RrTt

 Now do the same thing with the second allele on the
vertical axis
RT Rt rT rt
RRTT RRtT rRTT rRtT
RT

RRTt RRtt rRTt rRtt

Rt

RrTT RrtT rrTT rrtT

RrTt Rrtt rrTt rrtt

rT

rt
 How to do a Dihybrid Cross

 Analyze the data!

 Make a tally of all possible phenotypes

RT
Rt
RRTT RRtT rRTT rRtT
RT rT
rt Red/Tall – IIII IIII = 9
RRTt RRtt rRTt rRtt Red/Short- III = 3
Rt White/Tall- III = 3
White/Short- I = 1
RrTT RrtT rrTT rrtT
rT
9:3:3:1 Ratio
RrTt Rrtt rrTt rrtt
rt