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BMS/GNA2042 - Human Genetics - S2 2025

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Analyse the genetic code and work out the impact of the Δ32 deletion on the:

 a. A

mino

acid sequence and the protein – will the protein be disrupted, will any part

still be intact?

b.

Cell

phenotype/function- a protein is just one small part of a cell – how will the

CCR5

Δ32 mutation change the function or phenotype of the whole cell?

c.  

What the impact will be of a single

base pair deletion at nucleotide position 310 on the protein sequence?

What would it be different from the

Δ32 mutation?

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To demonstrate how your patient inherited the condition in Q2, draw your own diagram(s), to illustrate each RELEVANT possibility. Ensure you mention the aneuploidy in your diagram. Upload them in the box below as JPEGs or a PDF. 
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In terms of chromosomal rearrangements in a malignant cancer, which of the following are the most common:

There may be more than one correct answer, all correct answers must be selected for full marks, incorrect answers may lose marks for this question only.

0%
0%
0%
0%
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