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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?

Chromosome 10 Signup and view all the answers

What is the purpose of DNA sequencing in diagnosing OCA?

To determine the type of OCA accurately Signup and view all the answers

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

At the time of diagnosis Signup and view all the answers

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

Reducing sun sensitivity Signup and view all the answers

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

SLC24A5 Signup and view all the answers

What is the effect of OCA7 on hair color?

Blond to dark brown hair Signup and view all the answers

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

To reduce the risk of sun burns, skin damage, and skin cancer Signup and view all the answers