Tasks 3 and 4: Genetics questions and

problems (ANSWERS)

TASK 3 Short and Long answer Questions

1.
a. In which parent did nondisjunction take place?
Nondisjunction took place in the Male parent during meiosis, which resulted in the unequal
distribution of chromosomes in his gametes (n-1 and n+1).

b. How many chromosomes would be in zygotes 1, 2, and 3?

Zygote 1: 7 chromosomes
Zygote 2: 9 chromosomes
Zygote 3: 9 chromosomes

c. Which zygote, if any, would be most likely to be healthy? Explain.

None of the zygotes would likely be healthy because they each have an abnormal number of
chromosomes (aneuploidy).

d. Name the conditions the non-healthy zygotes have.

Zygote 1: monosomy
Zygote 2: trisomy
Zygote 3: trisomy

2.
The process of nondisjunction can result in an individual with Kleinfelter syndrome if…
Diagram of disjunction occurring in mother:

Klinefelter syndrome is a genetic disorder that is the result of a male being born with an extra
X chromosome (XXY). This can be caused by nondisjunction (unequal separation of
homologous pairs or chromatids during meiosis I or II) since it would require the fertilized
egg cell to have an extra X chromosome (n+1) due to some problem during meiosis. When
the Y (n) sperm cell fertilized the XX (n+1) egg, it caused trisomy in the zygote. Instead of
being XY, the zygote would be XXY, which results in a male individual with Kleinfelter
Syndrome.
3. The following statement concerns an issue that society may have to deal with as gene
therapy and genetic screening become more commonplace. Read the statement, and then
make a point-form Agree/Disagree list that includes at least two points to consider on each
side of the issue. "Private biotech companies that have invested millions of dollars in the
Human Genome Project have a right to obtain patents for specific gene sequences. Other
private com-panies or research facilities should have to ask permission, or even pay, to use
this information in their studies."

AGREE DISAGREE

The HGP would not have been possible Private companies and research facilities
without investment from private Biotech working on critical medical research should
companies. have to ask permission or pay to use
certain genetic sequences in their studies.

Private biotech companies discovered Private companies and investors should be

many of the gene sequences so they allowed to obtain patents for genetic
deserve to have access to their own sequences.
 discoveries.

Genetic sequences discovered by biotech Everyone should have unregulated access

companies could be used to cure diseases to genetic sequence information.
and make paramount medical discoveries.

Genetic research is an expensive business The private biotech companies who

that is only possible through investment of discovered different gene sequences in the
private biotech companies HGP will always have the best interests of
humanity (and ethics) as their top priority.

4.
Cause
Huntington’s disease is an autosomal dominant disorder caused by a genetic mutation on a
person’s HTT gene. This mutation affects their cell’s ability to produce a protein called
huntingtin. In people with HD, the CAG (codon) sequence is repeated too many times, which
causes cells to manufacture a harmful protein called mutant huntingtin instead. The mutant
protein causes certain brain cells to die (progressive degeneration of neurons) which
eventually causes physical, cognitive and emotional degeneration and premature death.
Most people inherit the gene from their parents, but in extremely rare cases the HTT
mutation can occur in individuals on its own.

Symptoms
Symptoms usually appear between the ages of 35 and 55, but the disease can appear
earlier (Juvenile HD) or later (Late-onset HD) in life. As the brain neurons die, physical,
cognitive and emotional symptoms will appear in stages. They can be categorized into three
stages of symptoms: early, middle and late. According to the NIH website, the symptoms are
as follows for each stage:

“Early stage:
● Behavioral disturbances
● Clumsiness
● Moodiness
● Irritability
● Paranoia
● Apathy
● Anxiety
● Hallucinations
● Abnormal eye movements
● Depression
● Impaired ability to detect odors
Middle stage:
● Dystonia
● Involuntary movements
● Trouble with balance and walking
● Chorea with twisting and writhing motions
 ● Unsteady gait (style of walking)
● Slow reaction time
● General weakness
● Weight loss
● Speech difficulties
● Stubbornness
Late stage:
● Rigidity (continual tension of the muscles)
● Bradykinesia (difficulty initiating and continuing movements)
● Severe chorea
● Serious weight loss
● Inability to speak
● Inability to walk
● Swallowing problems
● Inability to care for oneself”

These symptoms appear due to the areas of the brain that are affected and destroyed by the
mutant huntingtin protein. They cause significant disability and lead to early death, usually
caused by a coexisting illness or infection.

Rate of occurrence

There is a 50% chance of inheriting Huntington's disease if someone has one affected
parent. It is estimated that one in every 10,000 persons have Huntington's disease and
Juvenile Huntington's occurs for about 16% of all cases. This number is likely to rise in the
future because as HD is passed through successive generations, the severity of the
mutation in the HTT gene (called a trinucleotide repeat) usually increases and generally
leads to earlier onset of symptoms. The disease is not prevalent within any particular
population, race, ethnic groups, or sex.

Prevention
Researchers in many countries (including Canada and the USA) are working hard to find a
way to prevent, slow or cure the disease. However, research is slow since it relies heavily on
the voluntary participation of affected persons. Sadly there is no way to prevent Huntington's
disease from occuring as of yet. But genetic testing and gene therapies may play a key part
in removing the harmful gene and preventing mutations from being passed on to successive
generations.

Treatment
There are no treatments that can slow or stop the progression of Huntington's disease;
Current treatment strategies involve the use of medications to treat specific symptoms listed
above. As symptoms of the disease worsen, affected people need more assistance,
supervision, and care. There are two FDA approved medications that people with HD
commonly take to help treat chorea (abnormal involuntary movements), which are
‘Deutetrabenazine’ and ‘Tetrabenazine’.

Support groups
There are many support groups for people who suffer from, or have loved ones who suffer
from Huntington's Disease. For example, the Huntington Society of Canada offers access to
social work, community events and information that can raise awareness and advocate for
affected persons. Research is being conducted in Canada and globally to find promising
treatments and approaches to treating HD.

References

Genetic and Rare Diseases Information Center (GARD). (n.d.). Huntington disease.

National

Center for Advancing Translational Sciences (NCATS). Retrieved August 12,

2021,

from https://rarediseases.info.nih.gov/diseases/6677/huntington-disease

Huntington Society of Canada. (2020, October 30). What is Huntington disease?

https://www.huntingtonsociety.ca/learn-about-hd/what-is-huntingtons/

NEUROCNTR. (2014). Huntington disease overview, incidence and prevalence.

Center for

Neurological Treatment & Research.

http://www.neurocntr.com/huntingtons-disease.php
5. (listed as 1.) If a trait shows incomplete dominance, what type of expression is observed
in the hybrid? Explain this with an example.

If a trait shows incomplete dominance, a mixture of traits will be expressed in the hybrid, or
the dominant trait does not express fully due to the nonfunctional, recessive trait. For
example, the hybrid between a red and a white four-o-clock flower appears pink instead of
red, even though they are heterozygous for the red trait (Rr). Even though the allele for red
is dominant, it is not completely dominant so it expresses as a mixture or ‘lessened version’
of the traits. Incomplete dominance is an example of non-mendelian expression.

6. (listed as 2.) Which biological parent is responsible for the genetics of the sex of a fetus?
Explain.
A fetus’ sex is determined by their 23rd chromosome, which is XX in females and XY in
males. During meiosis, the haploid gametes created by the biological mother can only have
X chromosomes (usually X, X, X, X), but the haploid gametes created by men could be X or
Y. If normal meiosis occurs in the father, there is a 50% chance that the sperm would carry a
Y chromosome (creating a male fetus), and a 50% chance that it would carry an X
chromosome (creating a female fetus). Therefore, the biological male father is responsible
for the genetics of the sex of a fetus.

TASK 4 Genetics Problems

1. In humans, the recessive allele that causes a form of red-green colour blindness (c) is
found on the X chromosome.

k. Determine the genotypes and phenotypes of the F1 generation from a colour-blind

father and a mother who is homozygous for normal colour vision.

Let:
N = normal vision, and c = red-green colourblind
X= X chromosome, and Y= Y chromosome

Colour blind father (XcY) x homozygous for normal colour vision mother (XNXN)

XN XN

Xc XNXc XNXc
 Y XNY XNY

F1 Genotype ratio:
2 XNY : 2 XNXc
(1 : 1)
50% normal colour vision male
50% heterozygous female

F1 Phenotype ratio:
100% normal colour vision

l. Determine the genotypes and phenotypes of the F1 generation from a father who has
normal colour vision and a mother who is heterozygous for colour vision.

Normal colour vision father (XNY) x heterozygous for colour vision mother (XNXc)

XN Xc

XN XNXN XNXc

Y XNY XcY

F1 Genotype ratio:
1 XNXN : 1 XNXc : 1 XNY : 1 XcY
(1 : 1 : 1 : 1)
25% homozygous normal vision female
25% heterozygous normal vision female
25% normal colour vision male
25% colour blind male

F1 Phenotype ratio:
3 normal vision : 1 colour blind
(3 : 1)
75% normal vision
25% colourblind

m. Draw the possible Punnett squares to determine the genotypes of parents that could
produce a daughter who is colour blind.

Colour blind daughter must be XcXc because the allele for red-green color blindness is
recessive. Father must be XcY because colourblind trait is sex-linked and would need one
from each parent. Mother could be XNXc or XcXc since she would need to be a carrier be
colourblind.
 XN Xc

Xc XNXc XcXc

Y XNY XcY

Xc Xc

Xc XcXc XcXc

Y XcY XcY

Possible F genotypes:
- XcY x XNXc
- XcY x XcXc

Possible F phenotypes:
- Colour blind male x heterozygous normal vision female
- Colour blind male x homozygous/colour blind female

2. Consider a cross between a pea plant that is heterozygous for round seeds and a pea
plant that has wrinkled seeds. The allele for round seeds (R) is dominant over that for
wrinkled seeds (r). Using a Punnett square, determine the genotypes of the offspring.

Rr x rr

r r

R Rr Rr

r rr rr

F1 Genotypes:
2 Rr : 2 rr
(1:1)
50% heterozygous for round seeds
50% homozygous for wrinkled seeds

F1 Phenotypes:
2 round seeds: 2 wrinkled seeds
50% round seeds
50% wrinkled seeds
3. In guinea pigs, the black coat (B) is dominant over the white coat (b), and straight hair (H)
is dominant over curly hair (h). Using a Punnett square, complete the cross between a
heterozygous black, curly-haired individual and a homozygous straight-haired, white
individual. State the parent genotypes and gametes, and the F1 phenotypes and
genotypes.

Bbhh (heterozygous black, curly haired) x bbHH (white, homozygous straight haired)

bH bH bH bH

Bh BbHh BbHh BbHh BbHh

Bh BbHh BbHh BbHh BbHh

bh bbHh bbHh bbHh bbHh

bh bbHh bbHh bbHh bbHh

F1 genotype:
8 BbHh : 8 bbHh
1:1
50% BbHh (heterozygous black, heterozygous straight)
50% bbHh (homozygous white, heterozygous straight)

F1 phenotypes:
8 black with straight hair : 8 white with straight hair
1:1
50% black with straight hair
50% white with straight hair

4. Hypophosphatemia is a dominant genetic disorder caused by a deficiency of phosphates

in the blood. Assuming the other parent is free of the disorder, males with the disorder will
pass it on to all their daughters, but not their sons. Females with the disorder will pass it on
to approximately half of their children.

a. Is this pattern of inheritance autosomal or sex-linked? Explain.

The gene that causes hypophosphatemia must be found on the X chromosome because
biological fathers only give it to their daughters...and not their sons. This is because an
individual’s sex is determined by their biological father, depending on whether they receive a
copy of his X (for female) or Y(for male) chromosome during fertilization. Therefore, this
pattern of inheritance would be considered sex-linked.
An autosomal inheritance pattern is when variants are not located on the X chromosome but
are instead located on any of the other autosomal chromosomes (chromosomes 1-22).
b. Draw Punnett squares to show the inheritance pattern of the disorder in each of the two
scenarios.

Let:
H
= Hypophosphatemia allele
h
= normal allele
X = X chromosome
Y = Y chromosome

Scenario 1: How males pass it on to 100% of their daughter, but not their sons

Male with Hypophosphatemia (XHY) x Healthy female (XhXh)

Xh Xh

XH XHXh XHXh

Y XhY XhY

F1 genotype ratio:
2 XHXh : 2 XhY
(1 : 1)
50% heterozygous female
50% normal male

F1 phenotype ratio:
2 female with hypophosphatemia : 2 male without hypophosphatemia
(1 : 1)
50% females with hypophosphatemia
50% males without hypophosphatemia
100% of females will have hypophosphatemia
100% of makes will not have hypophosphatemia

Scenario 2: How women with hypophosphatemia will pass it on to 50% of their children
(regardless of homozygous or heterozygous)

a. Normal male (XhY) x heterozygous female (XHXh)

XH Xh

Xh XHXh XhXh

Y XHY XhY
 F1 genotype ratio:
1 XHXh : 1 XhXh : 1 XHY : 1 XhY
25% heterozygous for hypophosphatemia female
25% heterozygous normal female
25% hypophosphatemia male
25% normal male

F1 phenotype ratio:
2 hypophosphatemia: 2 normal
(1 : 1)
50% hypophosphatemia
50% normal

b. Normal male (XhY) x homozygous female (XHXH)

XH XH

Xh XHXh XHXh

Xh XHXh XHXh