Part I – Research a trait/disorder ( I choose Cystic Fibrosis in African Population) First explain why you chose this disorder/trait.

Assignment 1 1 ½ page

 

Read the following article about ethnic based genetic screening:

 

Genetic Screening: Ethnic Based https://www.bmc.org/genetic-services/ethnic-based    

 

Below are links to some examples of genetic traits found in specific populations:

 

Amish, Mennonite, and Hutterite Genetic Disorder Database http://www.biochemgenetics.ca/plainpeople/view.php

 

Jewish Genetic Disease Consortium http://www.jewishgeneticdiseases.org/jewish-genetic-diseases/

 

French Canadian genetic disorders https://www.snpedia.com/index.php/French-Canadian

 

Generation Scotland https://www.ed.ac.uk/generation-scotland

 

Sickle Cell Anemia and Malaria https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3499995/ https://www.cdc.gov/malaria/about/biology/sickle_cell.html

 

Huntington’s Cluster in Venezuela http://www.bbc.com/news/world-latin-america-10952800

 

Blonde Solomon Islanders https://www.livescience.com/20078-gene-mutation-blond-hair.html

 

Part I – Research a trait/disorder ( I choose Cystic Fibrosis in African Population)

 

First explain why you chose this disorder/trait. Then present a summary of the information you gathered during your research, including some of the following:

 

· links to your sources of information

 

· the genetic mutations that cause the disorder/trait

 

· mode of inheritance

 

· the symptoms of the disorder or characteristics of the trait

 

· treatments for the disorder

 

· characteristics of the population in which the disorder/trait is more prevalent

 

· the attitude of the affected population to the research into this genetic disorder/trait

 

· your personal comments about the disorder/trait

 

Part II – Diversity in Genomic Research

 

Read the following website about the importance of including people from different ethnic groups in genomic research. 

 

Putting diversity front and center https://www.genome.gov/news/news-release/Putting-diversity-front-and-center

 

Now that you have presented a genetic trait found in a distinct human population, speculate about whether there is a social justice component to it. If not, for Part II you may discuss a different trait in a different population that is likely to involve an aspect of social justice. 

 

Consider the following questions:

 

· Is the group in favor of further scientific and medical research into traits associated with their ethnicity? 

 

· Does the ethnic group feel they are treated differently by medical professionals?

 

· Does the group have trust issues with the medical community and, if so, why?

 

· Give your opinion about whether social justice issues may affect the level of medical care sought by members of some ethnic groups.

 

· Give your opinion about whether social justice issues may affect the quality of medical care received by members of some ethnic groups. 

 

Assignment 2 – 2 pages

 

Copy the following questions, add your answers, and submit below in one attached document.

 

1. Define the terms genetic drift, founder effect, and population bottlenecks. Give a specific example of a human population with a reduced gene pool, explain why this happened, and discuss some unique genetic traits found in this population. 

 

2. Do an Internet search for companies that will send you a kit to collect your DNA and then send you back a report. Briefly describe differences between these companies. What do they promise? What disclaimers do they include? Discuss whether or not you would consider commercial personal genome sequencing to reveal genetic details about your ancestry. Why or why not? Has your opinion of whether you would use an at-home kit changed as a result of what you have learned during this course?

 

Assignment 3 – Insert answers – 2-3 sententces.

 

M6 Case Study Report Form

 

Study the case study about PKU and the Hardy-Weinberg equation: PKU Carriers: How Many Are in Your Hometown?

 

Add your answers to the following questions from the case study and then submit this completed case study report form.

 

Part I – PKU

 

1. What are Jane’s symptoms when she eats foods containing the amino acid phenylalanine?

 

2. Given these symptoms, what organ is most affected when a person with PKU consumes the amino acid phenylalanine in their diet?

 

3. A person without PKU does not have any symptoms when they consume foods with the amino acid phenylalanine. Why might Jane have the symptoms she does when she consumes foods with phenylalanine?

 

4. What are the genotypes of Jane’s parents?

 

5. What are the genotypes of Jane’s brother and sister?

 

6. What is Jane’s genotype?

 

Part II – Hardy-Weinberg

 

1. Who is correct? Can Jane and Amanda directly count the numbers of carriers in a population? Why or why not?

 

2. Can Jane and Amanda determine any of the allele and/or genotype frequencies in the population just by counting? If so, which one(s)?

 

Part III – Carriers

 

1. Once Jane and Amanda know the frequency of the homozygous recessive genotype (q2), how can they determine the frequency of the recessive allele (q)?

 

2. How can Jane and Amanda determine the frequency of the dominant allele (p)?

 

3. If 33 of the 300,000 people in Corpus Christi, TX, have PKU, how many people are carriers (heterozygous) for PKU?

 

4. Dr. Jones mentioned that the allele and genotype frequencies in a population will not change over time if no evolutionary forces are acting on that population. To determine the number of carriers in a population, you make the assumption that no evolutionary forces are acting on the population. What are these evolutionary forces?

 

5. Is their reasoning sound? Did they correctly calculate their chance of having a child with PKU? If not, what should they include in their calculations?

 

NOTE: The last 2 questions are optional. If you are pursuing a career that will benefit from this type of knowledge, feel free to answer questions 6 & 7. I will give feedback, but there will be no penalty for incorrect answers.

 

6. If Jane marries somebody in Corpus Christi without symptoms of PKU, what is the chance that she and her husband will have a child with PKU?

 

7. If Amanda marries somebody in Corpus Christi without symptoms of PKU, what is the chance that she and her husband will have a child with PKU?

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