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18 Mar 2018

A patient has been referred to you with an altered bone structure in her hands that resembles the abnormalities produces by mutations of the HOXD13 gene. Two hypotheses have been presented for her: (1) She has a mutation in the coding region of the HOXD13 gene that results in an altered protein that has altered function in the cells of the developing limb bud. (2) The patient has a mutation in the regulatory region of the HOXD13 gene that alters the transcription of this gene, but only in the cells in the developing embryonic limb.

a. Design a test or tests that you believe would determine which hypothesis is correct.

The test that will need to be done on the patient to determine what is wrong is

b. Describe the results you would expect from your tests if first hypothesis is correct, and also what you would expect if the second hypothesis is correct.

c. Briefly explain to the patient (who is not a scientist) why these results would allow you to determine which hypothesis is correct.

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Jarrod Robel
Jarrod RobelLv2
20 Mar 2018

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