Genetics writing assignment Biological & Biomedical Sciences Essay (Essay Sample)
You are a genetic counselor and have been asked for your advice on the following cases. Please follow the directions for each case.1. Marcus and Raven have just applied for their marriage license (they are both 26). They had to have a blood test before they could apply for it and to their surprise, they both found out that they are carriers for sickle cell. They want to know:a. What causes Sickle Cell (genetically, name the gene)? What are the chances of having a child with Sickle Cell?b. What are the characteristics of Sickle Cell Disease and are all kids equally affected?c. Can they know if their child has Sickle Cell before it is born? If so, how?
2. Christopher and Ashley are pregnant with their first child. They are both 28 years old and are healthy. Christopher’s sister had a child with Down Syndrome two years ago so the couple is concerned. They want to know:a. What causes Down Syndrome (genetically, name the chromosome)? What are their chances of having a child with Down Syndrome (be as specific as possible)?b. What are the characteristics of Down Syndrome and are all kids equally affected?c. Can they know if their child has Down Syndrome before it is born?If so, how?3. Miguel and Melissa (both 32) are expecting their first child, a boy. Miguel has been diagnosed with Type I diabetes. Maria has no history of diabetes in her family. They want to know:a. What causes Diabetes (genetically)? What are their chances of having a child with Diabetes (be as specific as possible)?b. What are the characteristics of type I diabetes? Are all people equally affected?c. Can they know if their child has Diabetes before it is born? If so, how?
Genetics Writing Assignment
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* Sickle cell disease is often caused by the mutation in the HBB gene which encodes for beta-globin. In patients suffering from sickle cell disease, HBB gene mutation results in the formation of hemoglobin S (HbS) which replaces at least one beta-globin subunit. It has an autosomal recessive form of inheritance giving a 50% chance that their child would inherit/manifest with the disease. (U.S. National Library of Medicine, 2020).
* Yes. Patients with the disease often manifest with anemia, repeated infections, and periodic episodes of pain (U.S. National Library of Medicine, 2020).
* Prenatal chronic villus sampling (CVS) and amniocentesis are often performed to test for birth defects and other genetic conditions (U.S. National Library of Medicine, 2020).
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