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Bio- Sickle Cell - What is the official full name of the...

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1. What is the official full name of the HBB gene? A: hemoglobin, beta 2. List some of the HBB gene aliases. A: CD113t-C; beta-globin; HBB 3. Look at the category Summary, what is the structure of the normal adult hemoglobin protein, how many chains and of what type? A: There are four chains total that are polypeptides. Two are alpha chains and two are beta chains. 4. List the phenotypes associated with specific mutations on the HBB gene? A:Mutations within the beta globin chains causes a phenotype of sickle cell anemia. Ab- sence of the beta chain causes a phenotype of beta-zero-thalassemia. Then, when a reduced of beta chain is the mutation the resulting phenotype is beta-zero-thalassemia. 5. What is the chromosome number and detailed location of the HBB gene in the human genome? A: It is on chromosome 11 and is in the detailed location of 11p15.5. 6. List the two genes that are immediately adjacent to HBB (to the left and right). A: To the left side of HBB there is the gene OR51V1 which is an olfactory receptor which is located at 11p15.4. To the right side of HBB there is the gene Bd hemoglobin, delta and it is located at 11p15.5.
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