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Hello can someone help me with my case study and critical thinking questions please... appreciate it.

A couple that met at a Cystic Fibrosis Society support group is contemplating having children. They both had brothers who developed cystic fibrosis and they are concerned about the likelihood of having sons who have the disease. As a counselor, you are to answer the following two genetic counseling consult questions in addition to the five critical thinking questions that are listed below.

Genetic Counseling Consult Questions (To Answer)

What is the likelihood that any of their children (sons and/or daughters) will be born with the disorder?

What is the likelihood that any of their children (sons and/or daughters) will be carriers of the disorder?

Critical Thinking Questions (To Answer)

What are the main presenting issues? Include why they may have arisen. (Note—in this case, you are to assume that they have a child who presents with cystic fibrosis.)

Identify and use at least one website that you used to learn more about the issues and potential solutions; briefly explain what was found at the website(s).

What is (are) the potential disease or disorder? Include (a) a justification for your decision, (b) the causal agent, and (c) the mode of transmission.

What is the recommended treatment for the most likely disease or disorder you identified?

What is the prognosis for the disease or disorder (a) without treatment and (b) with treatment?

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Keith Leannon
Keith LeannonLv2
29 Sep 2019

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Related questions

Two parents consult a genetic counselor- you. They do not understand why all of their sons are colorblind (an X-linked trait) but none of their daughters are colorblind. Both of the parents appear normal.

You are their genetic counselor and need to explain to the parents:

Who is the carrier of the colorblindness?

What chromosome is the cause of this?

Why does it occur in sons and not daughters?

Could they have sons that are not color blind?

Q49. Which of the following is NOT true?

If a genetic disease reduces fertility and the allele thatcauses the disease offers no other advantage, the allele willlikely eventually disappear, due to natural selection.

Natural selection does not favor individuals who are homozygousfor the sickle-cell allele, because these individuals typically diebefore they are old enough to reproduce.

Individuals who are heterozygous HbA/HbS areprotected from malaria, and this is why sickle-cell diseasepersists in wetter, mosquito-prone regions in Africa.

In regions where malaria does not occur, individuals who areheterozygous HbA/HbS have a fitness advantageover those who are homozygous for the normal hemoglobin allele(HbA).

Q50. AFTER malaria is cured, the frequency of the HbSallele should decrease in regions with lots of mosquitoesbecause:

People will no longer die from sickle-cell disease in theseregions.

Having one copy of the HbS allele will no longer beadvantageous in these regions.

Natural selection will no longer act on the HbS alleleat all in these regions.

All alleles associated with genetic diseases eventuallydisappear.

Q52. If the frequency ofthe HbS allele is 0.4 in a population, what is thefrequency of the HbAallele (assuming this is atwo-allele system)?

Q53. Which of the following would be sufficient for theHardy-Weinberg equation to accurately predict genotype frequenciesfrom allele frequencies?

p + q = 1

The population is not evolving due to natural selection.

The population is not evolving due to any of the conditions thatdisrupt Hardy-Weinberg equilibrium.

The population is infinitely large.

Q54. In a village, if the proportion of individuals who havesickle-cell disease is 0.25, and the population is assumed to be atHardy-Weinberg equilibrium, what is the expected frequency of theHbS allele? (Hint: What is the genotype of people withsickle-cell disease, and how is that genotype represented in theHardy-Weinberg equation?)

0.1250.250.50.75

Q55. In the same village, what proportion of the populationshould be heterozygous HbA/HbS, according to theHardy-Weinberg equation?

Use the following passage to answer the nextthree questions.

It has been hypothesized that people who are heterozygous forthe allele that causes the deadly genetic condition cystic fibrosis(which, among other symptoms, reduces fertility) are more resistantto the deadly disease tuberculosis.

Q56. If the cystic fibrosis allele protects against tuberculosisthe same way the sickle-cell allele protects against malaria, thenwhich of the following should be true of a comparison betweenregions with and without tuberculosis?

Cystic fibrosis deaths should be more common in regions withtuberculosis.

Cystic fibrosis deaths should be less common in regions withtuberculosis.

Cystic fibrosis deaths should be equally common in both types ofregions.

Regional differences in the cystic fibrosis death rate should bepurely random and unpredictable.

Q57. A person who is heterozygous for the cystic fibrosis allelemoves to a small, isolated community where no one previouslycarried the allele. If the cystic fibrosis allele protects againsttuberculosis the same way the sickle-cell allele protects againstmalaria, what should happen to the frequency of the cystic fibrosisallele in the community over time, and why?

The cystic fibrosis allele should disappear from the population,because a single individual with the allele is not enough for it toproliferate.

The cystic fibrosis allele should increase to a relatively highfrequency, because heterozygotes with the allele will be morelikely to survive than others.

The cystic fibrosis allele should become fixed in thepopulation, due to genetic drift.

The cystic fibrosis allele should either disappear or increasein frequency, depending on chance as well as on tuberculosisprevalence and death rate.

Use the following additional passage to answer the nextquestion.

Suppose you travel to the future, to a time when neithercystic fibrosis nor tuberculosis have caused any deaths for manygenerations. In all of these future populations, thecystic fibrosis allele still exists at a low frequency.

Q58. You visit a huge city with millions of people. If you wereto start sampling the cystic fibrosis allele from one generation tothe next, what should happen to its frequency over the next fewgenerations, and why?

The allele frequency should change a lot from one generation tothe next due to random genetic drift.

The allele frequency should not change much from one generationto the next because the population is large.

The allele frequency should steadily increase due to naturalselection.

The allele frequency should steadily decrease due to naturalselection.

During a work-up for infertility, Brad (32 years old) is found tohave azospermia caused by congenital bilateral absence of the vasdeferens (CBAVD). His physician explains that 75-80% of men withCBAVD have a mutation in both cystic fibrosis transmembraneconductance regulator (CFTR) genes. The physician recommends thatBrad have CFTR genetic testing. Brad (a pediatric nurse) questionshis physician's medical acumen, exclaiming that he has absolutelyno pulmonary or pancreatic symptoms common with cystic fibrosis nordoes he have any family history of the disease. The physicianexplains that although mutations in CFTR are most often associatedwith pulmonary disease and pancreatic insufficiency, some men withtwo mutations have no symptoms other than CBAVD. Brad is laterdiagnosed with cystic fibrosis when he is found to carry an IVS8-5Tmutation in one CFTR gene and a P499A mutation in the other CFTRgene.

1. Do you agree with the "diagnosis" of cystic fibrosis? Explainyour answer.

2. What impact might this diagnosis have on his ability to obtainlife, health, &/or disability insurance?

3. Explain how it is possible that Brad has two mutated CFTR geneswhen no one else in his family has cystic fibrosis.

4. Brad's CFTR genes, altered by mutations are called: (choose thebest answer)

a) Polymorphisms

b) Alleles

c) Markers

d) Autosomes

5. Because Brad carries two different CFTR mutations, it would beappropriate to say he is:

(Choose the best answer and explain your choice.)

a) Homozygous for the CFTR mutations

b) Hemizygous for the CFTR mutations

c) Heterozygous carrier for the CFTR mutations

d) Compound heterozygous for the CFTR mutations

6. The CBAVD is referred to as the (genotype / phenotype) and theIVS8-5T / P499A mutations as the (genotype / phenotype).

With the technique, microscopic epididymal sperm aspiration (MESA),Brad may be able to produce biological children. Assuming thatBrad's wife is not a carrier of a CFTR mutation:

7. What is their risk for having a child with cysticfibrosis?

8. What are their chances for having a child that is a carrier ofone of Brad's CFTR mutations?

9. If Brad's wife is found to be a carrier of one of the 1000possible CFTR mutations, what is their chance of having a childwith cystic fibrosis?

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