Chapter 25, Problem 13CONQ

Summary Introduction

To review:

From thepedigree chart whether the syndrome is autosomal recessive, autosomal dominant, X-linked dominant, or X-linked recessive.

Introduction:

The Lesch-Nyhan syndrome is caused due to a mutation which occurs in the enzymecalled the hypoxanthine-guaninephosphoribosyltransferase (HPRT). This enzyme helps in the metabolism of the purine bases.Mutation in the HPRT enzyme affects a person’s neurodegenerative system and causes loss of motor control.