17. Mutation, Repair, and Recombination
Types of Mutations
Problem 12c
Textbook Question
Textbook QuestionIf you were to look up Gaucher disease on the OMIM website, you would see that there are three major types, designated Type I (OMIM 230800), Type II (OMIM 230900), and Type III (OMIM 231000). All three types are mutations of the gene for acid-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.
For each mutation, speculate about whether the acid-β-glucosidase enzyme is merely reduced in function or whether its production is eliminated, and explain why.
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