Case study 1 Genetics and Genomics

Session 1 Case Study
Read the case study and review the resources before completing the questions. Record your answers in a Word Document and include references in APA format for the resources you use to answer the assigned questions. This assignment is worth 15 points.
Cystic Fibrosis (CF)
A two-year old female patient whose parents have brought her to the hospital because she has a persistent cough and wheezing, who also appears to be underweight despite having a good appetite. The doctor ordered a sweat test, and the excessive amount of salt in the patient’s sweat revealed that she likely has cystic fibrosis (CF).
For some background on the genetics of CF, in your textbook review Figure 1.5 and Figure 1.6 on page 5 and 6 and Clinical Connection 4.1 on page 79. Other useful resources are listed below.
Cystic Fibrosis Resources
University of Utah. (n.d.). Examples of Single Gene Disorders: Cystic Fibrosis. Learn Genetics.
Click on: “Cystic Fibrosis”
https://learn.genetics.utah.edu/content/disorders/singlegeneeg/
U.S. National Library of Medicine. (2017). Cystic Fibrosis. MedlinePlus.
https://ghr.nlm.nih.gov/condition/cystic-fibrosis
Ong T., Marshall S.G., Karczeski B.A. (2001 Mar 26 [Updated 2017 Feb 2]). Cystic Fibrosis and Congenital Absence of the Vas Deferens. Gene Reviews.
https://www.ncbi.nlm.nih.gov/books/NBK1250/
John Hopkins University’s Online Mendelian Inheritance in Man. (2020). Cystic Fibrosis; CF, OMIM#219700.
https://omim.org/entry/219700
After familiarizing yourself with CF, concisely answer the following questions:
What gene is mutated in CF and where in the genome (which chromosome) is the gene located? (2 pts)
Name the protein that this gene codes for and what is the normal function of the protein? (3 pts)
How do mutations in this gene disrupt protein function and how does this lead to the symptoms observed in CF? (4 pts)
Is CF inherited recessively or dominantly? (We will discuss what this means in Session 2.) (2 pts)
Why is an excessive amount of salt in the patient’s sweat an indication of CF? (4 pts)
To avoid plagiarism, do not copy/paste answers directly from the resources. Rather, summarize answers in your own words. Remember to appropriately cite and reference resources according to APA standards.
Click on the Session 1 Case Study link to submit your assignment by the posted due date.

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