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Albinism in humans is sometimes caused by a mutation in the OCA2 gene. Albinism is a __
while the mutant DNA sequence in the OCA2 gene that causes albinism is a genome; allele
allele; chromosome mutation allele; genome mutation; trait phenotype; genotype
Solution
Albinism is a group of rare genetic disorders and termed as Oculocutaneous Albinism (OCA);
wherein the affected person has little or no color in his skin, hair, or eyes. OCA is termed
because the name of Oculocutaneous genes and classified as OCA; 1, 2, 3 and 4. OCA2 is also
called the type II (tyrosinase-positive) OCA2. It is an autosomal recessive disorder and which is
caused by reduced production of melanin pigment. The mutations related to OCA2 are three
large deletions, six different point mutations and two small in-frame deletions. This mutation
occurs in P gene.
So, the fifth option is correct. Albinism is a phenotype because the disease is observable. And the
mutation is associated to autosomal recessive disorder so, it is genotype. This will express when
two recessive genes come together.

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Albinism in humans is sometimes caused by a mutation in the OCA2 gene.pdf

  • 1. Albinism in humans is sometimes caused by a mutation in the OCA2 gene. Albinism is a __ while the mutant DNA sequence in the OCA2 gene that causes albinism is a genome; allele allele; chromosome mutation allele; genome mutation; trait phenotype; genotype Solution Albinism is a group of rare genetic disorders and termed as Oculocutaneous Albinism (OCA); wherein the affected person has little or no color in his skin, hair, or eyes. OCA is termed because the name of Oculocutaneous genes and classified as OCA; 1, 2, 3 and 4. OCA2 is also called the type II (tyrosinase-positive) OCA2. It is an autosomal recessive disorder and which is caused by reduced production of melanin pigment. The mutations related to OCA2 are three large deletions, six different point mutations and two small in-frame deletions. This mutation occurs in P gene. So, the fifth option is correct. Albinism is a phenotype because the disease is observable. And the mutation is associated to autosomal recessive disorder so, it is genotype. This will express when two recessive genes come together.