Exercises Flashcards

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1
Q

an autosomal recessive condition whereby the synthesis
of melanin pigment is reduced in parts like the skin, hair,
and eyes.

A

Tyrosinase-positive oculocutaneous albinism (Type II)

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2
Q

The mutated gene in Tyrosinase-positive oculocutaneous albinism is the ____ under chromosome ____

A

OCA2 gene or OCA2
melanosomal transmembrane protein gene; 15q

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3
Q

Individuals with Tyrosinase-positive oculocutaneous albinism (Type II) have visual
anomalies such as

A

reduced acuity and nystagmus.

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4
Q

the
mutated gene which is responsible for the wrinkled
phenotype of the pea plant seeds.

A

SBE1 gene (starch-branching enzyme 1 gene)

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5
Q

SBE1 gene is responsible for ___ during its development

A

amylopectin synthesis

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6
Q

SBE1 gene encodes for the enzyme called ____. However, the ____ mitigates this gene from producing the
said enzyme.

A

starch branching enzyme; insertion
mutation

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7
Q

Sickle red blood
cell is caused by a mutation in the two copies of the
individual’s ____

A

HBB gene (Hemoglobin subunit beta)

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8
Q

The protein that is affected by the mutation of HBB gene

A

Hemoglobin

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9
Q

The sickle cell gene is located in the ____

A

autosomes.

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