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1. Does a gene mutation or a chromosome mutation cause alkaptonuria?Explain.

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1. Does a gene mutation or a chromosome mutation cause alkaptonuria?Explain.

1. Does a gene mutation or a chromosome mutation cause alkaptonuria?Explain.

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Leticiaavanzado · Tutor durante 1 años
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lkaptonuria is a rare genetic disorder that is caused by a mutation in the gene that produces the enzyme homogentisate oxidase. This enzyme is responsible for breaking down the amino acids phenylalanine and tyrosine. When the enzyme is not functioning properly, it leads to the buildup of homogentisate, which can cause the urine to turn black when exposed to air.<br /><br />The mutation in the gene responsible for homogentisate oxidase leads to a deficiency of the enzyme, which is the cause of alkaptonuria. This is considered a gene mutation, as it occurs at the level of a single gene.<br /><br />In contrast, a chromosome mutation would involve a change in the structure or number of chromosomes, which can lead to a variety of genetic disorders. Examples of chromosome mutations include Down syndrome, which is caused by an extra copy of chromosome 21, and Turner syndrome, which is caused by a missing or partially missing X chromosome in females.<br /><br />In summary, alkaptonuria is caused by a gene mutation, specifically a mutation in the gene that produces the enzyme homogentisate oxidase.
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