Concept explainers
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:
One of the mutant allele sequences of the HGD gene is provided as follows:
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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Life: The Science of Biology
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