Alkaptonuria (AKU): Genetic Disorder
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Questions and Answers

What is the name of the protein that has a major influence on natural skin color variation?

  • Sodium/potassium/calcium exchanger 3
  • Sodium/potassium/calcium exchanger 4
  • Sodium/potassium/calcium exchanger 5 (correct)
  • Sodium/potassium/calcium exchanger 7

What is the typical range of visual acuity for individuals with OCA7?

  • 6/24 to 6/36
  • 6/12 to 6/24
  • 6/6 to 6/12
  • 6/18 to 3/60 (correct)

What is the role of the protein containing leucine-rich repeat in OCA7?

  • Melanocyte proliferation
  • Melanocyte destruction
  • Melanocyte differentiation (correct)
  • Melanocyte migration

What is the location of the mutation causing OCA7?

<p>Chromosome 10 (D)</p> Signup and view all the answers

What is the purpose of DNA sequencing in diagnosing OCA?

<p>To determine the type of OCA accurately (D)</p> Signup and view all the answers

At what stage should a patient with OCA be evaluated by an ophthalmologist?

<p>At the time of diagnosis (D)</p> Signup and view all the answers

What is the benefit of using dark glasses or a hat in OCA?

<p>Reducing sun sensitivity (A)</p> Signup and view all the answers

What is the name of the gene that encodes the protein associated with OCA7?

<p>SLC24A5 (A)</p> Signup and view all the answers

What is the effect of OCA7 on hair color?

<p>Blond to dark brown hair (A)</p> Signup and view all the answers

What is the purpose of protecting the skin from sun exposure in OCA?

<p>To reduce the risk of sun burns, skin damage, and skin cancer (D)</p> Signup and view all the answers

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