Exercises Flashcards
an autosomal recessive condition whereby the synthesis
of melanin pigment is reduced in parts like the skin, hair,
and eyes.
Tyrosinase-positive oculocutaneous albinism (Type II)
The mutated gene in Tyrosinase-positive oculocutaneous albinism is the ____ under chromosome ____
OCA2 gene or OCA2
melanosomal transmembrane protein gene; 15q
Individuals with Tyrosinase-positive oculocutaneous albinism (Type II) have visual
anomalies such as
reduced acuity and nystagmus.
the
mutated gene which is responsible for the wrinkled
phenotype of the pea plant seeds.
SBE1 gene (starch-branching enzyme 1 gene)
SBE1 gene is responsible for ___ during its development
amylopectin synthesis
SBE1 gene encodes for the enzyme called ____. However, the ____ mitigates this gene from producing the
said enzyme.
starch branching enzyme; insertion
mutation
Sickle red blood
cell is caused by a mutation in the two copies of the
individual’s ____
HBB gene (Hemoglobin subunit beta)
The protein that is affected by the mutation of HBB gene
Hemoglobin
The sickle cell gene is located in the ____
autosomes.