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Assessment 5 Instructions: Homework: Genetics Lab
For this assignment, you will be participating in a lab activity on genetics by analyzing the pedigree chart and karyotype for two patients.
REPRODUCTION AND GENETICS
The reproductive systems in males and females are different but have the common goal of continuation of human species. We will look closely at the reproductive systems in males and females and inheritance of genes. Further, we will explore genetic diseases in families and the concept of gene therapy for providing hope for genetically inherited disorders. Genetics can play a role in the traits that we inherit, but the environment around us can also impact our traits. We are born with a genetic code that is a culmination of genes from our parents and generations before us. Genetic diseases in families often are “hidden” if they are a recessive trait, such as cystic fibrosis or sickle-cell anemia. However, with the advances in science, gene therapy provides new hope for genetically inherited disorders like sickle-cell anemia.Have you ever wanted to know more about where exactly you came from? It has never been easier to find out thanks to the explosion of at-home DNA testing kits. Millions of people have tried them, resulting in a great surge in popularity. Many new companies offer genetic testing, also known as DNA testing, that allows an individual to receive a genetic diagnosis of their vulnerabilities to inherited diseases. In general, this helps determine an individual’s ancestry or biological relationships between people. Read the articles to learn more information.
In this lab, you will analyze the pedigree chart and karyotype for two patients Kayla and Emily. A karyotype is a picture of stained chromosomes arranged to show chromosome pairs. Abnormalities in chromosome number or size can be easily identified in a karyotype. Pedigree charts give a symbolic representation of phenotypic (observable) traits through a family. Using a pedigree, researchers can trace the pathway of a disease through families:
If gene therapy was available to fix a gene before birth, do you think this might cross the lines of unethical research?
Remember the following as you go through the lab:
Complete the assessment at the end of the lab. To do this, fill out the items requested within the lab, download that document or documents to your computer, and save it. You must attach the documents to the assignment and then submit the assignment.
Make sure that you read the Homework: Genetics System Lab Scoring Guide prior to submitting your document to ensure you have met all of the expectations for this assignment.
It is recommended to review the scoring guide prior to downloading your document, or documents, to your computer, since all work must be completed within the lab.
Competency 1: Describe the organization of the human body.
Explain the inheritance of an autosomal recessive trait by reading a pedigree.
Explain the gender of the second patient in a lab scenario.
Explain the results of the karyotype and how the chromosomal abnormalities affect the body systems.
Explain the positive and negative ramifications of genetic testing.
Requirements: 1 day
Genetics LabQuestion:What individuals would be affected by cystic fibrosis in the pedigree? Why?Answer:In the Pedigree Arelene, Tom, Wilma and Carla are affected. (Darkened circle and square) Cystic Fibrosis is anautosomal recessive disorder and for a person to be affected and have the phenotype traits, he or she musthave both genes from parents.Question:Would Michael be normal or be carrier of cystic fibrosis? Why?Answer:Michael must be a carrier as he has a daughter who is affected. for his daughter to be affected, Michael has tobe a carrier, and his wife has to be a carrier too.Question:Would Sam and Ann be normal or be a carrier of cystic fibrosis? Why?Answer:Ann is a carrier as one parent is affected and the other is a carrier, so Ann is definitely a carrier. Sam is acarrier as one parent is affected and the other is a carrier, so Sam is definitely a carrier. Arelene, the mother isaffected, and she has two kids affected, Wilma and Tom so George, the husband is a carrier and that why alloffspring are either carrier or affected.Question:Based on the pedigree, what is genotype of Ann and the probability that Ann could pass down the cysticfibrosis trait?Answer:Ann is carrier, and she is married to Michael who is a carrier too. the chances to pass the cystic fibrosis trait tooffspring is 25%. the chances for having a carrier offspring are 50%, and chances for having free offspringis25%Genotype will be either a carrier (Cc) upper case C is the cystic fibrosis Gene, and Lower-case c is thefree gene.Question:What is the gender of the fetus?Answer:The gender of the fetus is Male. the Karyotype has XY chromosomes (23 pair) XX is female XY is male.Question:Are there any chromosomal abnormalities?Answer:Yes, there is a chromosomal abnormality. there is an extra chromosome; there is 3 copies of chromosome 21,It is called trisomy which means three.Question:What would this chromosomal combination result in?Answer:Trisomy 21 leads to a genetic disease called Down Syndrome. The affected patient will have genetic.Question:
What information might a genetic counselor provide to Ann?Answer:Genetic counselors help identify families at possible risk of a genetic condition by gathering and analyzingfamily history and inheritance patterns and calculating chances of recurrence. They provide information aboutgenetic testing and related procedures.Question:What information might a genetic counselor provide to Emily?Answer:Genetic counseling gives you information about how genetic conditions might affect you or your family. Thegenetic counselor or other healthcare professional will collect your personal and family health history. They canuse this information to determine how likely it is that you or your family member has a genetic condition.
Resources: Reproduction and Genetics
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View the??infographic by selecting the system to learn how the reproductive system functions.
Barclay, T. (2020, July 29).?. Innerbody Research. https://www.innerbody.com/image/repfov.html#full-description
Barclay, T. (2020, July 29).?. Innerbody Research. ml#full-description
KidsHealth. (n.d.).?. https://kidshealth.org/en/parents/genetic-counseling.html
Ireland, K. A. (2018).?Visualizing human biology?(5th ed.). Hoboken, NJ: John Wiley and Sons.
Chapter 19, “The Reproductive Systems: Maintaining the Species.” This chapter focuses on the male and female reproductive systems and the importance of estrogen and testosterone. It also describes the negative feedback loops that control the production of sperm in males and the menstrual cycle in females.
Genetic Testing Resources
Seward, B. (2018).?.?Therapeutic Innovation & Regulatory Science,?52(4), 482?488.
Rothstein, M. A. (2018).?.?Journal of Law, Medicine & Ethics,?46(3), 794?801.
Spector-Bagdady, K. (2015).?.?American Journal of Law & Medicine,?41(4), 568?616.
U.S. Food and Drug Administration. (2019).??https://www.fda.gov/medical-devices/vitro-diagnostics/direct-consumer-tests
Holt, L., & Gosk, S. (2018).?.?CQ Roll Call.
Medline Plus. (2020, August 4).?. https://medlineplus.gov/ency/article/003935.htm
In addition, consider the work of the National Institutes of Health’s (NIH) National Genome Research Institute to prevent genetic discrimination: “Many Americans fear that participating in research or undergoing genetic testing will lead to being discriminated against based on their genetics. Such fears may dissuade patients from taking genomics-based clinical tests or volunteering to participate in the research necessary for the development of new tests, therapies, and cures. To address this, in 2008 the Genetic Information Nondiscrimination Act (GINA) was passed into law, prohibiting discrimination by employers and health insurers” (National Human Genome Research Institute, 2017).
Find more about the NIH’s work as you read the Genetic Information Nondiscrimination Act of 2008 that prohibits insurance companies and employers from genetic discrimination:
National Institute of Health: National Human Genome Research Institute. (2020).??https://www.genome.gov/about-genomics/policy-issues/Genetic-Discrimination
Ireland, K. A. (2018).?Visualizing human biology.?(5th ed.).?John Wiley and Sons.
Chapter 21, “Inheritance, Genetics, and Molecular Biology.” In this chapter, you will learn more about gene expression and inheritance. What are main differences between males and females? Why do I look like my mom and grandma, but not my dad?
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