You have a patient that exhibits the beginning symptoms of neurological loss of

Question

You have a patient that exhibits the beginning symptoms of neurological loss of function and decide to sequence the patient's genome to characterize any genetic markers for disease. You notice a mutation in protein's GPI anchor domain Describe what mutations would likely cause loss of function (in relation to the GPI anchor and the PTMs of. Describe how you would characterize any problems in the patient's carbohydrate using biochemistry-based assays. You decide to study the patient's function in vitro and in vivo. Describe ways you could do that. Propose a function for the repeat in PrP.

Explanation / Answer

Mutation in octapeptide repeat getting repeated 11-13 times would result in neurological loss of function.

Benedict's test, Barfoed test, Seliwenoff test are used for carbohydrate analysis.

Invivo it can be done through clinical test by altering the PrP sequence repeat. Invitro can be done through SDS PAGE.

PrP octapeptide repeat helps in maintaining neurological function like memory, emotions.

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