AP Biology

Unit 5 Heredity
Topic 5.3 Mendelian Genetics
 Concepts and Ideas
• Conserved processes support common
ancestry of life
• Mendel’s Laws
• Law of Segregation
• Law of Independent (Random)
Assortment
• Monohybrid and Dihybrid Crosses
• Probability
• Interpreting Pedigrees
• Chi-Square Analysis
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 Topic 5.3 Mendelian Genetics

•LO: Explain how shared, conserved, fundamental processes and features support the concept of common ancestry
for all organisms.

• EK: DNA and RNA are carriers of genetic information.

• EK: Ribosomes are found in all forms of life.
• EK: Major features of the genetic code are shared by all modern living systems.
• EK: Core metabolic pathways are conserved across all currently recognized domains.

•LO: Explain the inheritance of genes and traits as described by Mendel's laws.

• EK: Mendel’s laws of segregation and independent assortment can be applied to genes that are on different
chromosomes
• EK: Fertilization involves the fusion of two haploid gametes, restoring the diploid number of chromosomes and
increasing genetic variation in populations by creating new combinations of alleles in the zygote.

• a. Rules of probability can be applied to analyze passage of single-gene traits from parent to offspring.
• b. The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genetically linked genes) can often be
predicted from data, including pedigree, that give the parent genotype/phenotype and the offspring
genotypes/phenotypes.

Know and be able to use the Rule of Multiplication and the Rule of Addition.
Conserved Processes are Fundamental to the Continuity of
Life

• DNA – fundamental
molecule of heredity
• Ribosomes –
fundamental for the
expression of genetic
information

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0031/a/14977944_4033003/~~/gregor-mendel-prints.jpg?wait=0&attempt=0
Early experiments with genetics yielded two theories:
• Blending inheritance—gametes contained determinants
(genes) that blended when gametes fused during fertilization
• Particulate inheritance—each determinant was physically
distinct and remained intact during fertilization

+ 
 Mendel

https://askabiologist.asu.edu/explore/solving-genetic-mystery
Mendel’s Experiments with Peas

Advantages of using peas

- observable variety within characters
character – pea texture
trait – wrinkled or smooth
- easy to control crosses
self-pollinating flowers
can be cross-pollinated
- true-breeding parents could
be established
Mendel carried out
controlled crosses
to study inheritance

Pistil = female part

Stamen = male part
A typical experiment

Begin with true-breeding parents showing

contrasting traits (yellow/green)
for a single character (seed color)

Example
P1 yellow x green

F1 yellow

F2 ¾ yellow and ¼ green

analysis of the F2 allowed Mendel to discover

inheritance patterns
Mendel explained these results by
assuming that inheritance is
passed from parents to offspring in
the form of factors

a parent has two factors but may

pass on only one (Law of
Segregation)

the offspring inherits one factor

from each parent (two total)

the combination of these two

factors determines the appearance

the factor not expressed in the F1

is recessive the other is dominant
 Mendel rejected the idea of blended inheritance and
provided support for the idea of particulate inheritance,
though he didn’t know what the particles were.

We now know that

chromosomes
containing genes
which have
various forms (alleles)
are passed
from parents to
offspring
We represent the inheritance of alleles
in this way
alleles segregate
a capital letter, S in this case, is used
to represent the dominant allele

a lower-case letter, s in this case, is

used to represent the recessive allele

two parents homozygous for

contrasting traits are expected to
produce offspring (F1) that will
all show the dominant allele
When the F1 are
crossed the
resulting F2
generation show
the
traits in a 3:1
ratio
When the genotype of a parent is known, a Punnett Square
can be used to predict the offspring based on probability
When the genotype of a parent is known, a Punnett Square
can be used to predict the offspring based on probability
Expected Values and Observed Values
Do you hear that?

Sounds like Chi-Square

in your future!
YY or yy  homozygous

Yy  heterozygous

YY  genotype Yellow  phenotype

genetic makeup appearance

Therefore, the same phenotype may result

from different genotypes

YY or Yy producing the yellow phenotype

Mendel tested his hypothesis
by doing test crosses:
• He did this to determine
whether an individual is
homozygous or
heterozygous for a trait by
crossing it with a
homozygous recessive
individual.
• Mendel crossed the F1 with
known homozygotes (e.g.,
wrinkled or ss).
Mendel next considered two characters (four traits) at a time
Dihybrid cross
Truebreeding parentsYellow, Round Green, Wrinkled
YYRR yyrr
F1 YyRr

Self pollinate YyRr x YyRr

Are YR and yr tied together?
no – independent assortment
YyRr can form the following gametes

YR Yr yR yr
This 9:3:3:1 ratio in the F2
demonstrates Mendel’s
second law

The Law of
Independent Assortment
Mendel was unaware of
DNA and Chromosomes

However, today we can

see how his law of
independent assortment
is accomplished through
division of chromosomes
during meiosis
One of Mendel’s contributions to genetics
was the use of mathematical analyses—
the rules of statistics and probability.

Two coin tosses are independent events,

each will come up heads ½ the time.
The probability that both will come up heads
is:
½x½=¼
To get the joint probability, multiply the
individual probabilities (multiplication rule).
Using probability to predict outcomes

Rule of Multiplication
calculate the chance of each independent
event and multiply to find the probability
that they will occur together

Genotype
AaBBccDd

What’s the chance of a gamete carrying

ABcD
½x1x1x½ = ¼
Rule of addition
the sum of the probabilities of 2 or more
ways to achieve an outcome

Cross AaBbCc x aabbCc

probability of an offspring showing

at least 2 recessive traits

aabbcc ½ x ½ x ¼ = 1/16
aaBbcc ½ x ½ x ¼ = 1/16
aabbCc ½ x ½ x ½ = 2/16
aabbCC ½ x ½ x ¼ = 1/16
Aabbcc ½ x ½ x ¼ = 1/16
6/16 or 3/8
What’s the probability of heterozygous offspring
from two heterozygous parents?

There are two ways to get a heterozygote Ss;

Ss or sS
the probability is the sum of the individual
probabilities (addition rule):

¼+¼=½
 Pedigree Analysis

Khan Academy Pedigree Review

 Pedigree Analysis

•Every person with the abnormal phenotype has an

affected parent.
•Either all (if homozygous parent) or half (if
heterozygous parent) of offspring in an affected
family are expected to be affected.
 Pedigree Analysis

•Affected people often have two unaffected parents.

•In an affected family with unaffected parents, one-fourth
of children are expected to be affected
 Pedigree Analysis

Inheritance Pattern?

fill in genotypes
 Chi-Square Analysis

Used for hypothesis testing.

We will typically do a “goodness of fit” test.

H0 is the null hypothesis

HA is the alternative hypothesis

 Chi-Square Analysis
Goodness of Fit (GoF) Test

This corn shows two seed colors, purple and

yellow, and two seed shapes, smooth and dented.
Purple (P) Smooth (S)
Yellow (p) Dented (s)
 Chi-Square Analysis
Goodness of Fit (GoF) Test
Question: Do the genes for seed color
and seed shape assort independently?
H0: There is no statistically significant
difference between the observed data for
Purple (P)
seed color and seed shape and the data
Yellow (p)
expected based on independent
Smooth (S) assortment.
Dented (s) H0: The genes for seed shape and seed
color show no linkage, they assort
independently.
 Chi-Square Analysis
Goodness of Fit (GoF) Test
Question: Do the genes for seed color
and seed shape assort independently?
H0: The genes for seed shape and seed
color show no linkage, they assort
Purple (P)
independently.
Yellow (p)
Smooth (S) HA: The genes for seed shape and seed
Dented (s) color show linkage, they do not assort
independently.
 Chi-Square Analysis
Goodness of Fit (GoF) Test
Question: Do the genes for seed color
and seed shape assort independently?
Observed Data
Phenotype Observed
Purple (P) Numbers
Yellow (p) Purple, Smooth 118

Smooth (S) Purple, Dented 29

Dented (s) Yellow, Smooth 33

Yellow, Dented 6
 Chi-Square Analysis
Goodness of Fit (GoF) Test
The cross was between two parents
heterozygous for each trait
Purple (P) Smooth (S) PpSs x PpSs
Yellow (p) Dented (s) PS Ps pS ps
Observed Data
Phenotype Observed PS PPSS PPSs PpSS PpSs
Numbers
Purple, Smooth 118 Ps PPSs PPss PpSs Ppss
Purple, Dented 29
pS PpSS PpSs ppSS ppSs
Yellow, Smooth 33
ps PpSs Ppss ppSs ppss
Yellow, Dented 6
 Chi-Square Analysis
Goodness of Fit (GoF) Test

Purple (P) Smooth (S) The Punnett square, based on probability,

Yellow (p) Dented (s) predicts a 9:3:3:1 ratio for the expected
Phenotype Observed Expected
Numbers Numbers
Purple, Smooth 118 104.625
Purple, Dented 29 34.875
Yellow, Smooth 33 34.875
Yellow, Dented 6 11.625
 Chi-Square Analysis
Goodness of Fit (GoF) Test
Now, complete a chi-square analysis
(118 – 104.625)2/104.625 = 1.71 c2 = 5.533
(29 – 34.875)2/34.875 = 1 df = 3
(33 – 34.875)2/34.875 = 0.101 P-value = 0.05
(6 – 11.625)2/11.625 = 2.722 critical value = 7.81

Phenotype Observed Numbers Expected Numbers

Purple, Smooth 118 104.625
Purple, Dented 29 34.875
Yellow, Smooth 33 34.875
Yellow, Dented 6 11.625
 Chi-Square Analysis
Goodness of Fit (GoF) Test
Now, complete a chi-square analysis

c2 = 5.533 df = 3 P-value = 0.05 critical value = 7.81

The chi-square value of 5.533 is less than the critical value of

7.81 for a p-value of 0.05 and 3 degrees of freedom. Therefore,
we fail to reject the null hypothesis, no linkage appears to be
at work in the inheritance of genes for seed color and seed shape.