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Assessment for Feedback and Grade: Genetics and

Culminating task

Task 2: Opinion Piece

1. Opinion Piece:

Genetic report cards are hypothetical documents that would provide information

about an individual's genetic makeup, including predispositions to certain diseases,

physical traits, and other biological characteristics. The idea of creating genetic

report cards has sparked debate among scientists, policymakers, and the general

public, with some arguing that they could revolutionize healthcare and

personalized medicine, while others warn of ethical and privacy concerns. I would

personally want a genetic report card since I would like to know if there is a

history of diseases in my family tree. I would also like to see what aspects of my

genetics would be the most problematic for me in my old age.

On the one hand, genetic report cards could be incredibly useful in improving

healthcare outcomes. By analyzing an individual's DNA, doctors could identify

potential health risks and tailor treatment plans accordingly. For example, if
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someone has a genetic predisposition to heart disease, they could be advised to

adopt a healthier lifestyle and be screened more regularly for cardiovascular issues.

Similarly, genetic report cards could help identify genetic mutations that increase

the risk of cancer, allowing for earlier detection and potentially life-saving

interventions.

Moreover, genetic report cards could help researchers identify genetic links to

diseases and conditions, leading to a better understanding of the underlying

biology and potential new treatments. For example, if a genetic report card showed

that a large percentage of people with a particular condition share a specific genetic

variant, researchers could focus their efforts on understanding how that variant

contributes to the disease and developing targeted therapies.

However, there are also valid concerns about the creation of genetic report cards.

One major worry is the potential for discrimination against people with certain

genetic predispositions. For example, employers or insurance companies could use

genetic information to make decisions about hiring, firing, or insuring individuals.

This could lead to unfair treatment and exacerbate existing inequalities in society.

There are also concerns about privacy and data security. Genetic information is

highly personal and sensitive, and there are worries that genetic report cards could

be used to identify individuals or be hacked and misused. Additionally, the

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accuracy and interpretation of genetic information are not always straightforward,

and there is a risk of misdiagnosis or misinterpretation of results.

In conclusion, the creation of genetic report cards is a complex issue with valid

arguments on both sides. While they have the potential to revolutionize healthcare

and personalized medicine, there are also valid concerns about discrimination,

privacy, and accuracy. Any decision to create genetic report cards must be made

with careful consideration of these ethical and practical concerns, and with a

commitment to protecting individual rights and ensuring that the benefits of such a

technology are distributed equitably. Although there are risks and benefits to

genetic testing, I believe that there is a greater benefit to knowing how to live a

prolonged life than there are risks to not knowing. The ability to have to foresight

to prevent a treatable disease is priceless since not knowing may lead to death for

the individual.

Task 3: Short and Long answers.

a. In which parent did nondisjunction take place?

The nondisjunction took place in the father, male fruit fly.

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

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

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

Because one zygote is missing a chromosome while the other two have an

additional chromosome, none of the zygotes would be healthy. Down syndrome

and other illnesses could be the result of this.

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

While zygote 2 and 3 have a trisomy, zygote 1 has a monosomy.

2. Explain how the process of nondisjunction can result in an individual

with Klinefelter syndrome. Create a diagram showing the disjunction

occurring in the mother to help explain your answer.

Nondisjunction is a process that occurs during cell division, specifically during

meiosis, where homologous chromosomes or sister chromatids fail to separate

properly. As a result, one daughter cell receives an extra chromosome, while the

other daughter cell lacks a chromosome. When this error occurs during the

formation of reproductive cells, it can lead to chromosomal abnormalities in the

offspring.

In the case of Klinefelter syndrome, nondisjunction occurs during the formation of

sperm cells in the father, where the father's sex chromosomes fail to separate
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properly during meiosis, resulting in the formation of a sperm cell with an extra X

chromosome. When this sperm fertilizes an egg with a normal X chromosome

from the mother, the resulting zygote will have three sex chromosomes: two X

chromosomes from the mother and one X chromosome from the father. This

results in an individual with Klinefelter syndrome, who has a genotype of XXY

instead of the typical XY genotype of males.

Klinefelter syndrome is a chromosomal disorder that affects males, and it is

associated with various physical and developmental abnormalities. These include

reduced fertility, gynecomastia (enlarged breast tissue), reduced body hair, and tall

stature. Some individuals with Klinefelter syndrome may also experience learning

disabilities, speech and language delays, and behavioral issues.

In summary, the process of nondisjunction during the formation of sperm cells can

result in an individual with Klinefelter syndrome, where the individual has an extra

X chromosome, leading to various physical and developmental abnormalities.

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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

- Private biotech companies have- - Patents can limit access to important

invested significant amounts of genetic information, hindering
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money in the Human Genome scientific progress and potentially

Project and should have the impeding the development of new

right to benefit from their treatments and cures.

investment by obtaining patents - Patents can also create monopolies,

for specific gene sequences. allowing companies to charge

- Obtaining patents can exorbitant prices for treatments or

incentivize biotech companies tests, making them inaccessible to

to continue investing in genetic many people who may need them

research and development,

leading to further advancements

and discoveries in the field

Overall, the issue of gene patenting is complex, and both sides have valid

arguments. On one hand, private companies should be able to benefit from their

investments in genetic research. On the other hand, access to genetic information is

crucial for scientific progress and the development of new treatments, and limiting

access through patents may have negative consequences for society. Therefore, it is

important to strike a balance that allows for continued progress and innovation

while also ensuring that genetic information is accessible to those who need it.
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4. Research Huntington’s disease. Write a description of this disease using

the following headings and include at least two references in proper

APA format.

e. Causes – Huntington's disease is a genetic disorder caused by a mutation in

the Huntingtin (HTT) gene, which is located on chromosome 4. This

mutation results in the production of an abnormal form of the huntingtin

protein, which accumulates in the brain and leads to the death of certain

types of brain cells, particularly those in the basal ganglia. Huntington's

disease is an autosomal dominant disorder, meaning that a person only needs

to inherit one copy of the mutated gene from one parent to develop the

condition. If a parent has the mutated gene, each child has a 50% chance of

inheriting it and developing the disease. The mutated HTT gene contains an

abnormally expanded CAG (cytosine-adenine-guanine) repeat sequence,

which leads to the production of an abnormally long huntingtin protein. The

length of the CAG repeat is directly correlated with the age of onset and

severity of symptoms in affected individuals. Individuals with 36 or more

CAG repeats will develop the disease, while those with fewer than 36

repeats will not. The exact mechanism by which the mutated huntingtin

protein causes brain damage is still not fully understood. However, it is

believed that the protein accumulates in the brain cells and interferes with
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various cellular processes, leading to the death of these cells. This eventually

leads to the progressive and irreversible symptoms of Huntington's disease,

including movement disorders, cognitive decline, and psychiatric symptoms.

In summary, Huntington's disease is caused by a mutation in the HTT gene,

which results in the production of an abnormally long huntingtin protein that

accumulates in the brain and leads to the death of brain cells. The mutation

is inherited in an autosomal dominant pattern, and the severity of the disease

is directly related to the length of the CAG repeat sequence in the mutated

gene.

f. Symptoms – Huntington's disease has a wide range of physical, cognitive,

and mental impairments as well as other symptoms. Involuntary jerking or

writhing motions, as well as muscle issues like stiffness or muscle

contracture, are examples of movement disorders. Together with sluggish or

unusual eye motions, bad posture, unsteady balance, and difficulties

speaking or eating. Cognitive impairments can make it difficult to priorities,

plan, or concentrate on tasks. Together with a lack of adaptability or a

propensity to persist in a belief, habit, or action. The time it takes to process

thoughts and the difficulty of learning new information may both decrease as

well. Irritability, depression or apathy, social withdrawal, and suicidal or

death thoughts are all symptoms of psychiatric disorders. A specific type of

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the illness might start in childhood. Irritability, depression or apathy, social

withdrawal, and suicidal or death thoughts are all symptoms of psychiatric

disorders. A specific type of the illness might start in childhood. This

juvenile variety may have an impact on a child's physical, mental, and

emotional growth. Thirty to fifty percent of kids with this syndrome

experience seizures. The progression of juvenile Huntington's disease is

typically more rapid than that of the adult condition. The average lifespan of

a person with the condition is 10 to 15 years after the onset of symptoms.

g. Rate of Occurrence: 3–7 out of every 100,000 people of European descent

have Huntington's disease. But, it seems that other populations are less likely

to contract the disease.

h. Prevention – There is currently no known prevention for Huntington's

disease. However, genetic testing and counseling can help individuals at risk

make informed decisions about family planning and early detection and

management of the disease.

i. Treatment's objectives include reducing the severity of the disease's

symptoms and assisting the afflicted individual with everyday activities.

Some drugs help to lessen aberrant movements, behaviours, and spasms.

Two medications that are frequently prescribed to treat the condition are

amantadine and tetrabenazine.

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j. Support Groups – The Huntington's Disease Society of America (HDSA) is

the leading nonprofit organisation committed to enhancing the lives of all

those impacted by the condition. The HDSA hosts activities all around the

country to inform people about the condition and interact with those who

have it. Another organisation that serves Canadians similarly to the HDSA is

the Huntington Society of Canada (HSC). The HSC funds medical research

and collaborates with health and social care professionals to help them better

serve those who are ill.

Sources:

- Huntington Society of Canada. (2022, March 18). Family Services Program | Huntington

Society of Canada. Huntington Society of Canada | We Support Those Facing

Huntington Disease. https://www.huntingtonsociety.ca/family-services

- Huntington disease: MedlinePlus Genetics. (n.d.).

https://ghr.nlm.nih.gov/condition/huntington-disease#statistics

- Huntington disease: MedlinePlus Medical Encyclopedia. (n.d.).

https://medlineplus.gov/ency/article/000770.htm

- Huntington Society of Canada. (2022b, March 18). Family Services Program | Huntington

Society of Canada. Huntington Society of Canada | We Support Those Facing

Huntington Disease. https://www.huntingtonsociety.ca/family-services

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1. If a trait shows incomplete dominance, what type of expression is

observed in the hybrid? Explain this with an example.

When a trait shows incomplete dominance, the phenotype of the heterozygous

hybrid is a blend or intermediate of the phenotypes of the homozygous parents. In

other words, neither allele is dominant over the other, and the resulting phenotype

is a combination of both alleles.

For example, let's consider the trait of flower color in snapdragons. This trait

exhibits incomplete dominance, where the homozygous dominant genotype (RR)

produces red flowers, the homozygous recessive genotype (rr) produces white

flowers, and the heterozygous genotype (Rr) produces pink flowers. In this case,

neither the dominant red allele nor the recessive white allele is fully expressed in

the heterozygous genotype, resulting in an intermediate phenotype of pink flowers.

Another example of incomplete dominance can be seen in the trait of hair texture

in humans. The homozygous dominant genotype (SS) produces straight hair, the

homozygous recessive genotype (ss) produces curly hair, and the heterozygous

genotype (Ss) produces wavy hair, which is an intermediate phenotype between

straight and curly hair.

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In summary, in incomplete dominance, the heterozygous hybrid shows an

intermediate or blended phenotype, reflecting an equal expression of both alleles.

2. Which biological parent is responsible for the genetics of the sex of a

fetus? Explain.

The biological father is responsible for the genetics of the sex of a fetus. This is

because the father's sperm carries either an X chromosome or a Y chromosome,

which determines the sex of the fetus. If the sperm carries an X chromosome, the

resulting zygote will develop into a female fetus (XX), while if the sperm carries a

Y chromosome, the resulting zygote will develop into a male fetus (XY).

Therefore, the sex of the fetus is determined by the genetic contribution of the

father's sperm

Task 4: Genetic 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.
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- Fathers: XcY

- Mothers: XcXc

- Genotype: 50% XcXc and 50% XcY

- Phenotype: 100% of average individuals.

F1 Xc Y

Xc XcXc XcY

Xc XcXc XcY

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. (Same chart used as above)

Mother is XcXc and the father is XcY.

Genotype: 25% XcXc, 25% XcY, 25% XcXc, 25% XcY

Phenotype: Of all newborns, 75% will be deemed normal, while 25% will be

impacted.

F1 Xc Y
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Xc XcXc XcY

Xc XcXc XcY

m. . Draw the possible Punnett squares to determine the genotypes of

parents that could produce a daughter who is colour blind.

Daughter: XcXc, where the mother is either colorblind or a carrier and the father is

colorblind. because the allele for red-green color blindness is recessive. Father

must be XcY because colorblind trait is sex-linked and would need one from each

parent

Xc Y

Xc XcXc

XcXc

1. 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.

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Genotypes Rr and rr. 50% heterozygous for round seeds and 50% homozygous

recessive for wrinkled seed.

Rr r

r Rr rr

r Rr rr

2. 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.

- Parent Genotypes: BBhh and bbHH

- Gametes: Bh, bh, Bh, bh

- bH, bH, bH, bH

- F1 Genotypes: 50% BbHh heterozygous for both traits.

- 50% bbHh homozygous for color and heterozygous for hair.

- F1 Phenotypes: 50% black colored straight hair guinea pigs

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F1 Bh bh Bh bh

BH BbHh bbHh BbHh BbHh

BH BbHh bbHh BbHh BbHh

BH bbHh bbHh bbHh bbHh

BH bbHh bbHh bbHh bbHh

3. 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.

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

- Draw Punnett squares to show the inheritance pattern of the disorder in

each of the two scenarios.

Based on the given information, the pattern of inheritance for hypophosphatemia is

X-linked dominant, which is a type of sex-linked inheritance.

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This is because the disorder is caused by a dominant gene located on the X

chromosome, which is one of the sex chromosomes. Males have one X

chromosome and one Y chromosome, while females have two X chromosomes.

Therefore, a male with the disorder can only pass on his X chromosome to his

daughters, resulting in all of them inheriting the disorder. However, his sons will

receive his Y chromosome and not be affected by the disorder. On the other hand,

a female with the disorder has a 50% chance of passing on the affected X

chromosome to each of her children, regardless of gender.

In summary, the inheritance pattern of hypophosphatemia is X-linked dominant, as

the disorder is caused by a dominant gene located on the X chromosome and

shows different patterns of inheritance in males and females.

F1 Generation: Father is XhY, Mother is XX

F1 Xh Y

X XhX XX

X XhY XY
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F2 Generation: Mother is XhX , Father is XY

F1 Xh X

X XhX XX

Y XhY XY

Sources:

- Benefits of Testing with CENTOGENE: centogene.com. (n.d.).

https://www.centogene.com/diagnostics/benefits-of-genetic-testing

- About NHGRI. (n.d.). Genome.gov. https://www.genome.gov/about

- Genetic testing - Mayo Clinic. (2020, April 14). https://www.mayoclinic.org/tests-

procedures/genetic-testing/about/pac-20384827

- Mozilla. (2019, April 2). 23 reasons not to reveal your DNA. The Internet Health Report

2019. https://internethealthreport.org/2019/23-reasons-not-to-reveal-your-dna/

- MedlinePlus: Genetics. (n.d.). https://ghr.nlm.nih.gov/primer/testing/discrimination