Sickle Cell Anemia Mutation by GIUSEPPE CALABRESE https://padlet.com/gc002/kqci70k97o7wgz0f en-us 2022-10-26 19:37:30 UTC 2022-11-15 16:23:14 UTC hello@padlet.com Disease state and name of gene ljs006 https://padlet.com/gc002/kqci70k97o7wgz0f/wish/2357943161 Sickle Cell Anemia
Hemoglobin Subunit Beta (HBB) gene]]> 2022-10-26 20:16:01 UTC https://padlet.com/gc002/kqci70k97o7wgz0f/wish/2357943161 Chromosomal location ljs006 https://padlet.com/gc002/kqci70k97o7wgz0f/wish/2357943691 Sickle cell anemia is caused by a point mutation that occurs in the hemoglobin beta gene. In this gene the mutation occurs on chromosome 11p15 (Rasmussen 2022).

]]> 2022-10-26 20:16:29 UTC https://padlet.com/gc002/kqci70k97o7wgz0f/wish/2357943691 References ljs006 https://padlet.com/gc002/kqci70k97o7wgz0f/wish/2357947894 Ashley-Koch A, Yang Q, Olney RS. Sickle hemoglobin (HbS) allele and sickle cell disease: a HuGE review. Am J Epidemiol. 2000 May 1;151(9):839-45. Review.

Brent Cornell. 2016. Mutations | BioNinja. Bioninjacomau. https://ib.bioninja.com.au/standard-level/topic-3-genetics/31-genes/mutations.html.

Robin Miller. 2022. Sickle Cell Disease | Nemours Teen Health. https://kidshealth.org/en/teens/sickle-cell-anemia.html

Onimoe G, Rotz S. 2020. Sickle cell disease: A primary care update. Cleveland Clinic Journal of Medicine. 87(1):19–27. doi:10.3949/ccjm.87a.18051. 
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Rasmussen S. 2022 Jul 26. OMIM Entry SICKLE CELL ANEMIA. wwwomimorg. https://www.omim.org/entry/603903.

Williams TN, Thein SL. 2018. Sickle Cell Anemia and Its Phenotypes. Annual Review of Genomics and Human Genetics. 19(1):113–147. doi:10.1146/annurev-genom-083117-021320.

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]]> 2022-10-26 20:20:30 UTC https://padlet.com/gc002/kqci70k97o7wgz0f/wish/2357947894 "Normal" function of gene ljs006 https://padlet.com/gc002/kqci70k97o7wgz0f/wish/2357948392 HBB is the gene that supplies the  instructions for the manufacturing of the protein beta-globin. Beta-globin is a subunit of the protein hemoglobin (Ashley-Koch et al. 2000).]]> 2022-10-26 20:21:05 UTC https://padlet.com/gc002/kqci70k97o7wgz0f/wish/2357948392 Signs and symptoms ljs006 https://padlet.com/gc002/kqci70k97o7wgz0f/wish/2357950276 Due to the shape of sickle cell anemia, infected individuals are prone to clotting and abnormally low O2 levels. Clotting is the leading cause of heart attacks and strokes. Low O2 levels can cause extreme fatigue, nausea, and dizziness. The sickle-shaped red blood cells can also cause a pain crisis which is a sharp pain when abundant RBCs get caught and block blood flow (Onimoe and Rotz 2020).]]> 2022-10-26 20:23:13 UTC https://padlet.com/gc002/kqci70k97o7wgz0f/wish/2357950276 What mutation occurs? ljs006 https://padlet.com/gc002/kqci70k97o7wgz0f/wish/2357952053 The HBB gene is found on chromosome 11. Within the HBB gene, a thymine is replaced with an adenine. This results in a glutamic acid being replaced with valine at position 6 in beta-globin. This mutation is written as Glu6Val or E6V (Ashley-Koch et al. 2000). ]]> 2022-10-26 20:24:49 UTC https://padlet.com/gc002/kqci70k97o7wgz0f/wish/2357952053 What happens to the mRNA with this mutation? ljs006 https://padlet.com/gc002/kqci70k97o7wgz0f/wish/2357953483 A simple base pair mutation, resulting in a change from a T to an A in the DNA template strand, is the cause of sickle cell anemia (Cornell 2016).
Wild Type 
3’CTC5’→5’GAG3’
Mutant Type 
3’CAC5’-->5’GUG3’

]]> 2022-10-26 20:26:28 UTC https://padlet.com/gc002/kqci70k97o7wgz0f/wish/2357953483 What happens to the protein after this gene is translated given the mutation? ljs006 https://padlet.com/gc002/kqci70k97o7wgz0f/wish/2357955458 5’GAG3’ codes for Glutamic Acid in the wild type.
5’GUG3’ codes for Valine in the mutation type.
Replacing glutamic acid with a valine result in the hemoglobin s (an abnormal hemoglobin) subunits to stick together and form long, rigid molecules. The cell type that is sickled is the red blood cell. The red blood cells appear more as a crescent shape instead of a normal round shape as seen above in figure 2. The sickle shape causes the hemoglobin cells to die prematurely, decreases their oxygen-carrying ability, and can cause them to block small blood vessels (Williams and Thein 2018). 

]]> 2022-10-26 20:28:32 UTC https://padlet.com/gc002/kqci70k97o7wgz0f/wish/2357955458 How does the change in protein function result in the sign and symptoms? ljs006 https://padlet.com/gc002/kqci70k97o7wgz0f/wish/2357961073 Valine restructures the hemoglobin becoming insoluble in nature. These insoluble hemoglobin molecular are not able to carry as much O2 due to their reduce surface area (Cornell 2016).]]> 2022-10-26 20:34:25 UTC https://padlet.com/gc002/kqci70k97o7wgz0f/wish/2357961073 Overall, how does disrupting the structure of the gene disrupt the function of the protein and cause the disease state? ljs006 https://padlet.com/gc002/kqci70k97o7wgz0f/wish/2357964848 Wild Type= 3’CTC5’→3’ GAG5’→ Glutamic acid →biconcave 
Mutation= 3’CAC5’→3’GUG5’→ Valine→sickle cell


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