LIFE: THE SCIENCE OF BIOLOGY
LIFE: THE SCIENCE OF BIOLOGY
11th Edition
ISBN: 9781319145125
Author: Sadava
Publisher: MAC HIGHER
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Chapter 15.2, Problem 1R
Summary Introduction

To review:

The following, based on the given information,

a. The sequence of amino acid that a mutant allele has produced and whether the mutation is a non-sense, silent, frame-shift or missense.

b. The reason due to which the function of the enzyme gets affected by this mutation.

Given:

The wild-type coding sequence (part) of the HGD (Homogentisate 1, 2-dioxygenase) gene is given as follows:

Coding sequence            …TTG ATA CCC ATT GCC…..Amino acid sequence is … Leu    Ile     Pro  Ile   Ala….. 

One of the mutant allele sequences of the HGD gene is provided as follows:

Coding sequence            …TTG ATA TCC  ATT GCC.....Amino acid sequence is …. Leu   Ile      Ser    Ile    Ala…..

Introduction:

Alkaptonuria is a genetic disorder. The person who suffers from this disease cannot process the amino acids called phenylalanine and tyrosine. It is produced as a result of a mutation in the gene named had that produce an enzyme HGD. In absence of this enzyme homogentisic acid accumulate in the blood and tissue.

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