Imagine that a doctor is presented with a patient that lacks irises. What could be said of this patient?
A)This patient likely carries a loss-of-function mutation.
B)This patient could be diagnosed as having aniridia.
C)This patient likely carries a mutation in Pax6.
D)This patient may carry mutations in genes downstream of Pax6.
E)All of these choices are correct.

Question

Quizplus · Accepted Answer

All of these statements are correct in the context of a patient lacking irises. Aniridia is the condition characterized by the absence of the iris, which can result from loss-of-function mutations. The PAX6 gene is crucial for eye development, and mutations in this gene can lead to aniridia. Additionally, mutations in genes that are downstream of PAX6 in the developmental pathway could also contribute to this condition, as they may disrupt the processes that are initiated or regulated by PAX6.

Imagine That a Doctor Is Presented with a Patient That