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Question 6:
Use the following scenario for questions 6-8.
Julia had a sibling who died because of a genetic disease as an infant. Before having children, she and her husband Tobias get genetic testing and counseling. They are unlucky.
For the GAA gene, Julia has one normal allele and one totally non-functional allele. Tobias has one normal allele and one totally non-functional allele.
What is the likelihood that an offspring will have Pompe disease?

A. 0% of having Pompe disease

B. 25% of having Pompe disease

C. 50% of having Pompe disease

D. 75% of having Pompe disease

E. 100%

Question 7:
Use the following scenario for questions 6-8.
Julia had a sibling who died because of a genetic disease as an infant. Before having children, she and her husband Tobias get genetic testing and counseling. They are unlucky.
For the GAA gene, Julia has one normal allele and one totally non-functional allele. Tobias has one normal allele and one totally non-functional allele.
If any of their offspring test positive for Pompe disease, when are symptoms likely to develop (remember, both parents have one non-functioning allele, 0%GAA)?

A. Before the age of nine months

B. Anytime during adolescence up through middle adulthood.

Question 8:

Use the following scenario for questions 6-8.
Julia had a sibling who died because of a genetic disease as an infant. Before having children, she and her husband Tobias get genetic testing and counseling. They are unlucky.
For the GAA gene, Julia has one normal allele and one totally non-functional allele. Tobias has one normal allele and one totally non-functional allele.
Imagine you are their genetic counselor. Explain to the parents, what causes the disease and explain how it affects the body and how the treatment for Pompe will work.
Use this checklist to make sure your answer is complete:
How is the DNA of an offspring with Pompe different than the DNA of somewhat without the disease?
What function is being disrupted at the cellular level ?
Why does having this disease lead to death (what happens to the body)?
What is the treatment that is used to help Pompe patients?
How does it "fix" the problem?
Are offspring with Pompe cured for life once they receive a dose of the medicine? Explain why or why not.

1 Answer

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Question no.6:

Answer:

The correct answer is option B which is there 25% chances of having the pomp disease.

Step-by-step explanation:

According to the given information given in question both the Julia and her husband are carriers. Due to which there are three genetic probabilities of their child:

  1. Normal kid with both healthy alleles: 25%
  2. Carrier healthy child with one healthy and one defective gene: 50%
  3. Child with pomp disease having two defective genes: 25%

Question No. 7:

The correct option is A which is symptoms will appear before the age of nine months.

Step-by-step explanation:

In this disease, there is low production of an enzyme acid α-glucose, which degrades lysosomal glycogen. In the absence of enzyme lysosomal glycogen accumulates and results in the weakness of muscle especially related to breathing. This leads to early onset of disease symptoms and early death usually in infancy in case of having both defected genes.

Question No. 8:

Answer:

  • The DNA of chromosome no. 17 of a normal person has a gene GAA and the pomp offspring will have the defected gene. Like the nucleotide sequence of the gene will be changed.
  • At cellular level in pomp, there will be an accumulation of lysosomal glycogen.
  • The muscles which are involved in breathing do not work properly leading to low breathing rate or completely blocking the respiration.
  • This is a genetic problem which can not be fixed.
  • There is no cure for this disease because it affects intracellular metabolism which is not easy to cure by enzymes supplements.
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