Actual Genetic Mutation - Affect the Amino Acid Sequence and Protein Structure - Medical Sciences Assignment Help

Assignment Task :

1. A detailed description of the mechanism of done expression for this disease. This needs to include transcriptional and translational aspects.

Issues to be addressed include (but are not exclusive to):-

• What chromosome and position (locus) does the disease affect?

• What type of mutation is it? (ie. duplication, deletion, insertion)

• Is it a sex linked disease?

• What is the actual genetic mutation and how does it specifically affect the DNA and mRNA sequence?.

• How does it affect the amino acid sequence and protein structure?

• How does it affect protein or enzyme function? 

Many of the diseases will be derived from mutations on a specific gene. In some cases, there may be hundreds of possible mutations. Students are to choose only ONE mutation,,but discuss it in great depth. Identifying the locus of the gene is Important, but the focus of the assessment should be on a specific mutation within that gene. 
2. A detailed description of the disease and treatment options

• Describe current treatments.

• Does genetic engineering offer alternative treatments for the future? 
 

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