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Question

With respect to phenylketonuria identify which statement is not correct.

A
It is an example of pleiotropy
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B
It is an error in metabolism
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C
It is a case of aneuploidy
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D
Caused due to autosomal recessive trait
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Solution

The correct option is A It is a case of aneuploidy
  • Phenylketonuria causes the amino acid to increase in the amount in the body, So, it is an error in metabolism.
  • An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop.
  • PKU is an autosomal recessive disorder, caused by mutations in both alleles of the gene for phenylalanine hydroxylase (PAH), found on chromosome 12.
  • Aneuploidy is the state where humans have an abnormal number of chromosomes that cannot be related to this disease.
  • So, the correct answer is option C.

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