Chapter B, Problem 12P

If you were look up Gaucher disease on the $\text{OMIM}$ website, you would see that there are three major types, designated $\text{Type I }\left(\text{OMIM 230800}\right)$, $\text{Type II }\left(\text{OMIM 230900}\right)$, and $\text{Type III }\left(\text{OMIM 231000}\right)$. All three types are mutations of the gene for acid $\text{β-glucosidase}$, encoded on chromosome 1. Different mutations of this gene produce the three types of Gaucher disease that differ somewhat in their symptoms and disease severity.

a. For each mutation, speculate about whether the acid $\text{β-glucosidase}$ enzyme is merely reduced in function or whether its production is eliminated, and explain why.

b. Thinking about the production or function of the acid $\text{β-glucosidase}$ enzyme, why do you suppose different mutations of this gene produce differences in symptoms and disease severity?