GROUP 3

Armstrong, Alexandra Emilia L.

Elizaga, Jhalen Ross L.

Laxamana, Martina Chantal B.

Lualhati, Alyssa Jane B.

Magpantay, Bea Trisha B.

Martinez, Gean Paolo G.

Moreno, Prince Kobe S.

Revadavia, Jessica Marie S.

CHAPTER 6 APPLIED QUESTIONS

1. To answer the following questions, consider these population data on sex ratios:

Selected sex ratios at birth Selected sex ratios after age 65

Nation Sex
ratio Nation Sex ratio
Costa Rica 970 Rwanda 620
Tanzania 1,000 South Africa 630
Liechtenstein 1,010 France 700
South Africa 1,020 United States 720
United States 1,050 Qatar 990
Sweden 1,060 Montserrat 1,060
Italy 1,070 Bangladesh 1,160
China 1,130 Nigeria 990
a. In Rwanda, South Africa, France, and the United States, males die, on average, significantly younger than
females do. What types of information might explain the difference?

- Some diseases can be more deadly in males and habit or practice that can shorten their lifespan such as heart
disease. Smoking and drinking in excessive amounts are some of the great contributors to cutting the lifespan of
males. It is more common in males to work in dangerous jobs and commit suicide because there is a large
tendency that they will avoid seeking medical care due to the cultural norms that prevent them from seeking
mental and medical help.
Y chromosome tends to develop mutations more often than X chromosomes and lack of second normal X
chromosome that will alter or mask the X-linked abnormalities. Developmental disorders are also more common
among boys.

REFERENCE:
Shmerling, Robert H., M.D. (2016, February 19). Why men often die earlier than women. Retrieved
from: https://www.health.harvard.edu/blog/why-men-often-die-earlier-than-women-201602199137

b. In Costa Rica, how many males at birth are there for every 100 females?

- There are 97 males for every 100 females at birth in Costa Rica.

c. Name a country in which more males than females live past 65.

- Monserrat and Bangladesh have more males that past 65 than females.

2. In severe Hunter syndrome, deficiency of the enzyme iduronate sulfate sulfatase leads to the buildup of
certain carbohydrates, swelling the liver, spleen, and heart. In mild cases, deafness may be the only symptom.
Intellect is usually normal, and life span can be normal. Hunter syndrome is X-linked recessive. A man with a mild
case has a child with a carrier.

a. What is the probability that a son inherits Hunter syndrome?

- The probability that a son inherits Hunter syndrome is 25% or ¼.

b. What is the chance that a daughter inherits Hunter syndrome?

- There is no chance that a daughter inherits Hunter syndrome (0%).

c. What is the chance that a daughter is a carrier?

-There is a 25% or ¼ chance that their daughter is a carrier.

3. Amelogenesis imperfecta is X-linked dominant. Affected males have extremely thin enamel on the teeth.
Female carriers have grooved teeth from uneven deposition of enamel. Why might the phenotype differ
between the sexes?

- This is a mosaic. Girls have two chromosomes, so they can have one normal gene. Alternating zones of normal
and abnormal enamel related to active X chromosomes. Males show the trait fully and females who inherit the
mutant gene have vertical markings of the enamel because of the inactivation of x chromosome or lyonization.
In most cases, males with an X-linked form of this condition experience more severe dental abnormalities than
affected females because the mutated gene that causes the disorder is located on the X chromosome, one of
the two sex chromosomes.

REFERENCE: https://en.wikipedia.org/wiki/Amelogenesis_imperfecta
https://quizlet.com/235910705/chapter-6-review-genetics-flash-cards/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1853073/

4. Explain how X inactivation might enable a woman to pass Rett syndrome to a son.

- Most boys have only one X chromosome, so the effects are not softened by a second normal chromosome.
Males with Rett syndrome usually die inside the mother’s womb.
REFERENCE: What causes Rett syndrome. Retrieved
from: https://www.nichd.nih.gov/health/topics/rett/conditioninfo/causes

5. A drug used to treat cancer also shows promise in treating Angelman syndrome. The drug removes methyl
groups from the paternal copy of the gene UBE3A which is part of the imprinted region of chromosome 15.
Explain how the drug might work.

- It activates and rescues the paternal copy of the UBE3A gene and stays up to three months after the treatment.
The drug can also restore the proper function of the dormant UBE3A gene. The improper function of the UBE3A
gene is the cause of Angelman syndrome and restoring it is a possible therapeutic approach for treating the
syndrome.

REFERENCE: Wright, Jessica (2011, December 21). Clinical research: Cancer drug could treat Angelman
syndrome. Retrieved from: https://www.spectrumnews.org/news/clinical-research-cancer-drug-could-treat-
angelman-syndrome/
Angelman Syndrome Foundation. (2012, March 21) .Research Reveals Possible Treatment for Autism-related
Angel Syndrome. Retrieved from: https://www.angelman.org/possible-treatment-for-angelman-syndrome/

REFERENCES:

Lewis, R. (2018). Human Genetics: Concepts and Applications PDF. (12 th ed. Chapter 6: Matters of Sex Pp. 106-
121) Penn Plaza, New York City. Mc-Graw Hill Education.