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GENETICS

A. PRACTICE FILLING OUT PUNNETT SQUARES

The physical structures and metabolic systems of all living organisms are coded for by DNA. Sections
of DNA that code for proteins are called genes. There can be different versions of a gene, and these
are called alleles (e.g. “B” and “b” alleles).

The combinations of alleles that an organism has is referred to as the genotype. There are three
main genotypes: homozygous recessive (bb), heterozygous (Bb), and homozygous dominant
(BB). In many cases, knowing the genotype means that you can describe the phenotype, or physical
appearance/metabolic characteristics of the organism.

A Punnett Square is a diagram that is used to predict the genetic outcome of reproduction between
two organisms. A punnett
square shows the alleles from
each parent, and all the possible
combinations of alleles that are
possible in the offspring.

In organisms with two complete

copies of DNA (diploids), the
female parent is the one that
generates the large, non-mobile
haploid gamete (ovum/egg),
and the male parent generates
the smaller, mobile haploid
gamete (sperm).

A specific example: a male

parent that is heterozygous
(Bb) mates with a female who is
homozygous recessive (bb)
have 50% (2/4) offspring that
are heterozygous (Bb) and 50%
(2/4) offspring that are
homozygous recessive. I have
colored each allele, so that you
can follow it from the parental
genotype to the gamete genotype, through to the offspring genotype.
 Frequency versus Percent versus Ratio
These terms are related, and often confused by students. Pay attention to which value a question is
asking for, so that you can provide the correct answer.

1) Frequency: a quantity ranging from 0.0 to 1.0 (e.g. the frequency of the “b” allele in
the population is 0.47)

2) Percentage: the quantity out of 100 (e.g. 47% of the alleles in the population are “b”)

3) Ratio: proportions of two or more categories that constitute a whole. Represented by

numbers separated by “:” e.g. 9:1. There are two main ratios we deal with in Bio 100
genetics:
(a) Phenotype ratio - the ratio of dominant to recessive individuals (e.g. 1:1 -
there is an equal proportion of dominant and recessive individuals, or 3:1 -
there are three dominant individuals for every recessive individual)
(b) Genotype ratio - the ratio of homozygous recessive to heterozygous to
homozygous dominant individuals (e.g 1:2:1)

✅Complete the following Punnett Squares (all squares must be filled out), and find the quantities.
1) Bb x BB

Bb Genotype frequency Phenotype frequency

homozygous homozygous
B b recessive
heterozygous
dominant
Dominant Recessive

B B
B 0 2 2 4 0
B b
B
B B B
B
B b

2) BB x bb

BB Genotype ratio Phenotype ratio

homozygous homozygous
B B recessive
heterozygous
dominant
Dominant Recessive

b
B B
b b 0 4 0 4 0
b b
 B B
b
b b

3) XaXa x XAY

XaXa Genotype ratio Phenotype ratio

X homozygous hetero homozygous

Xa recessive zygous dominant
Dominant Recessive
a
X
Xa a
X Xa 0 4 0 4 . 0
Xa X
a a
y
X
Xa
Y a
Y
Y

4) Bb x bb

Bb Genotype frequency Phenotype frequency

homozygous homozygous
B b recessive
heterozygous
dominant
Dominant Recessive

B b
b b 2 2 0 2 2
b b
b
B b
b
b b

5) XX x XY

XX Genotype ratio Phenotype ratio

homozygous homozygous
X X recessive
heterozygous
dominant
Dominant Recessive
 X X
X X 0 2 2 4 0
X X
Y
X X
Y
Y Y

6) XAXa x XAY

XAxa Genotype frequency Phenotype frequency

X X homozygous
heterozygous
homozygous
Dominant Recessive
A a recessive dominant

X X
A A
X XA 0 2 2 2 0
X X
A A a
Y
X X
Y A a
Y Y

✅ Complete the following Punnett Squares (all squares must be filled out), and find the parental
genotypes of the unknown parent.
7) ? x Aa
A A AA AA
AA a
a Aa Aa
A A
 8) ? x Cc

Cc
10) ? x XaXa

C c
C CC Cc XAY
Cc c Cc cc XA Y
X
9) ? x BB X XAXa XaY
a
bb a
X
b b a X XAXa XaY
a
B B Bb Bb
B B Bb Bb
B. YOUR OBSERVED PHENOTYPES AND GENOTYPES

Complete the following table. Traits 1 through 8 are “dominantly inherited”. This means that if your
phenotype matches the description, you have at least one dominant allele. Traits 9 to 12 are recessively
inherited, which means that if your phenotype matches the description, you have two recessive alleles. I
have completed the first row for you. (2pts)

Confused?
Rows 1 to 8: Check if you have the trait described in column 1.
Because these are dominant traits:
If you say yes in column 3 your genotype is AA or Aa in column 4.
If you say no in column 3 your genotype is aa.

The last 4 traits are recessive and:

If you say yes, your genotype is aa
If you say no, you can be either AA or Aa

Trait Description Your phenotype Your possible genotype

1 Ability to roll tongue Person can roll tongue into a U shape Can roll tongue AA or Aa

2 Ability to fold tongue Person can fold tongue back so that it lies can fold tongue AA or Aa
nearly flat against the back of the tongue

3 Widow’s peak Hairline comes to a point in the center of No aa

hairline the forehead

4 Freckles Small spots of pigment are present on the no aa

nose and cheeks (may be seasonal)

5 Dimples Indentations are present in the cheeks has dimples AA or Aa

just beyond the corners of the mouth

6 Dimpled chin A cleft is present in the center of the chin no aa

7 Interlocking fingers When hands are put together, some yes Aa or AA

people automatically place the left thumb
over the right thumb.

8 Bent little finger When hands are flat, palm down, the no aa
dominant allele causes the last joint of the
little finger to bend inward toward the
fourth finger.

9 Attached earlobes Bottoms of earlobes are attached to the Attached aa

face, not free-hanging. earlobes

10 Hitchhiker’s thumb Person can bend last thumb joint no AA or Aa

backwards until it makes a nearly 90°
angle

11 Mid-digital hair Hair (may be very fine) is present on the no AA or Aa

middle joint of one or more fingers

12 Short hallux (big toe) Second toe is longer than the big toe no AA or Aa
C. PEDIGREE ANALYSIS

You probably noticed that for a few

traits you could not identify your
exact genotype. If an individual
expresses a dominant trait, it cannot
be easily determined if that
individual’s genotype is homozygous
dominant or heterozygous. In such
cases, it is often necessary to “take a
family history” in order to construct a
pedigree. Pedigrees are types of
family trees which are used to
represent the heritable traits of
parents and offspring over
generations. Pedigrees are
constructed using information about the phenotypes of individuals, and are very useful in
tracking the occurrence of heritable diseases within a family.

Pedigrees utilize conventional symbols to denote individuals and relationships. See the diagram
above.

✅ In the space below, sketch out your biological pedigree that starts with your maternal and
paternal grandparents, and includes all living descendants. You can upload a photo of your sketch, or
create it digitally. If you do not know your full biological pedigree simply sketch out the “biological
minimums” needed to generate YOU!
 Look at the pedigree below. Assume the trait follows simple dominance for eye color. The
shaded individuals have the brown-eye phenotype (either BB or Bb genotype) and the
non-shaded individuals have the blue-eye phenotype (bb genotype). The roman numerals
indicate the generation.

If you cross BB with bb, every single child will be Bb and have brown eyes.
If you cross Bb with bb, half the children will have blue eyes, and half will have brown eyes.
This is called a TEST CROSS

What are the genotypes of the following people? (1pt)

A BB

B bb

C bb

D BB
D. SEX LINKED TRAITS

All of the examples of genes we have examined so far are genes which are carried
on autosomes. These are chromosomes which are possessed by both male and
females, and have nothing to do with gender. The chromosomes X and Y are sex
chromosomes, which determine chromosomal sex in humans. Typically, females
possess two copies of the X chromosome, making them XX; males possess one X
chromosome and one Y chromosome, making them XY.

The genes for some traits are carried on the X chromosome; these are referred to
as X-linked traits. Hemophilia is a bleeding disorder that slows the blood clotting
process. People with this condition often experience prolonged bleeding following
injury or surgery, and, in severe cases, spontaneous bleeding into joints and
muscles. Hemophilia occurs more commonly in males than females because the
condition is caused by a mutant allele located on the X chromosome. This allele is
represented using Xa to indicate the mutant allele is on the X chromosome. The Xa
allele is recessive, while the normal allele, represented simply as XA, is dominant.

In males, one mutant allele is sufficient to cause hemophilia. In females, there

must be two copies of the mutant allele to cause hemophilia. Females can be
“carriers” of the hemophilia allele. This means that they have one mutant allele,
but do not have hemophilia because they possess a normal allele. Therefore, males
are affected by hemophilia much more frequently than females. X-linked traits are
expressed using X and Y symbols to indicate the alleles on the sex chromosomes.
A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked
traits to their sons.

Genotype Phenotype
XA XA Normal female
Xa X a Female with hemophilia
XA Xa Carrier female
Xa Y Male with hemophilia
XAY Normal male
 Example of crossing a Xa Y
hemophiliac male with a carrier
female Xa Y

XA Xa XA XA Xa XAY
Xa Xa Xa Xa Y

You are working with a family that has a hemophilia diagnosis. Use their pedigree to help answer the
following questions. Consider that people marrying into the family are healthy.

a. Complete the following table. The first row has been completed for you (1pt)

Individual sex chromosomes phenotype genotype

A XY affected by hemophilia XaY

B XX normal female XAXA

C XX Normal Female XAXA

D XX Carrier Female XAXa

E XY affected by hemophilia XaY

F XX Carrier Female XAXa

G XX Carrier Female XAXa

H XY Affected by hemophilia XaY

I XX Carrier Female XAXa

CORN!!!
Corn is a staple food across the planet, and was domesticated in Mexico over 10,000 years ago. There
are many different varieties that have been selected by Native American people for different
properties. You may be familiar with sweet corn from the grocery store, but it does not store well -
the kernels dry into a wrinkled seed. Starchy kernels are better for storage, and dry into plump
round kernels. There are many different colors of corn, too! You have probably seen both yellow and
blue corn tortillas. The blue color comes from the production of a pigment called anthocyanin.

There are two genes that we will focus on today:

1) Color
a. Dark: D
b. Light: d

Genotype Phenotype
DD Dark
Dd Dark
dd Light

2) Shape
a. Round: R
b. Wrinkled: r

Genotype Phenotype
RR Round
Rr Round
rr Wrinkled
 a. Corn Parental Cross Cards A and B

CARD A

1. Will you treat this as a monohybrid cross or dihybrid cross? Explain

It would be treated as a monohybrid cross because of how the 1st generation has homozygous dominant
and recessive geno and phenotypes resulting in the F2 Generation to be Light and Dark

2. Describe the phenotype and possible genotype for A1 and A2

phenotype description possible genotypes

A1 Dark and Round DD

A2 Light and Round dd

3. Which allele is dominant?

The Dark and Round DD

4. What is the possible genotype for F1?

Dd

5. In the space below draw a punnett square showing F1XF1 and what the expected F2
offspring would be.
6. What is the expected phenotype ratio and genotype ratio for F2?
expected phenotype ratio: 3:1
expected genotype ratio: 1:2:1

7. Using cob A-F2 on the card above, record the observed number of grains of each
phenotype in 2 rows.
Phenotype Dark Light

Grain count 141 60

Total: Total: 60

Total number of grains: 201

8. Using your data from (7) and your punnett square, calculate the expected counts for the
F2 (expected ratio * total number of grains)
Phenotype: Dark Expected number of grains 35:71:35
Phenotype: Light Expected number of grains 15:30:15

9. Do the actual counts deviate from the expected counts? If so, explain why.

No
 CARD B

10. Will you treat this as a monohybrid cross or dihybrid cross? Explain

A monohybrid cross because of the same dominant phenotype in color and just a different texture

11. Describe the phenotype and possible genotype for B1 and B2

phenotype description possible genotypes

B1 Wrinkled rr

B2 Round RR
12. Which allele is dominant?
The round corn is the dominant allele

13. What is the possible genotype for F1?

Rr

14. In the space below draw a punnett square showing F1XF1 and what the expected F2
offspring would be.

15. What is the expected phenotype ratio and genotype ratio for F2?
expected phenotype ratio: 3:1
expected genotype ratio: 1:2:1

16. Using cob BF2, record the observed number of grains of each phenotype in 2 rows.
Phenotype Round Wrinkled

Grain count 117 41

Total:117 Total:41

Total number of grains:148

17. Using your data from (7) and your punnett square, calculate the expected counts for the
F2 (expected ratio * total number of grains)
Phenotype: Round Expected number of grains 29:59
Phenotype: Wrinkled Expected number of grains 10:21
18. Do the actual counts deviate from the expected counts? If so, explain why.

No
 b. Dihybrid cross

You will be given a corn cob C, which represents an unknown cross.

19. Using the above cob, record the observed number of grains of each phenotype in 2 rows.

Phenotype Dark Light Round Wrinkled

Grain count 133 61 143 64

Total: 133 Total: 61 Total: 143 Total: 64

Total number of grains: 401

20. On the basis of the data recorded in (19), what inference can you make about the
genotypes of the parents of these grains?

The genotypes could be rr, RR, dd, rr, Dr, dR, DR, dr

21. Given (20), calculate the expected counts for the F2:
Phenotype: Dark Expected Count: 17
Phenotype: Light Expected Count: 8
Phenotype: Wrinkled Expected Count: 18
Phenotype: Round Expected Count: 7
22. Calculate the Chi-Square statistic for your data set (see the appendix) What does the
value tell you about your data? (show your work)
Appendix: CHI SQUARED TEST