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InformatIon about albInIsm What Is Albinism?

Types of Albinism While most people with albinism have very light skin and hair, levels of pigmentation can vary depending on one’s type of albinism Oculocutaneous (pronounced ock-you-low-kew-TAIN-ee-us) albinism (OCA) involves the eyes, hair and skin Ocular albinism (OA), which is much less Photo courtesy of Positive Exposure, rick Guidotti



Albinism Fact Sheet - JMU

Oculocutaneous albinism-caused by a mutation in 1 of 4 genes These mutations result in symptoms affecting vision, as well as skin, hair, and iris color o Type 1— Caused by a mutation in a gene on chromosome 11 Some people with this disorder never experience changes in pigmentation, but others



ALBINISME

albinism is located on an X chromosome Females have two X chromosomes (XX), while males have one X chromosome and one Y chromosome (XY) X-linked ocular albinism appears almost exclusively in males as albinim is a recessive trait One person in 17,000 has some type of albinism Abnormal eye findings of albinism? 1



INFORMATION ABOUT ALBINISM What Is Albinism?

Types of Albinism While most people with albinism have very light skin and hair, levels of pigmentation can vary depending on one’s type of albinism Oculocutaneous (pronounced ock-you-low-kew-TAIN-ee-us) albinism (OCA) involves the eyes, hair and skin Photo courtesy of Positive Exposure, Rick Guidotti



Albinism - San Antonio Eye Center

of albinism If both parents carry the gene, there is a one-in-four chance with each pregnancy that the baby will be born with albinism One type of albinism, called X-linked ocular albinism, is usually inherited from the mother In this case, the gene for albinism is located on an X chromosome Females have two X



Albinism - QUEENBEGUMSCIENCE

Making observations: To determine the loci of the genes that may possess a mutation that leads to albinism, make observations of the karyotype below Circle the locus for each gene and label it with the gene’s code Remember the p arm of the chromosome is above the centromere and the q arm is below the centromere Gene TYR: locus 11q14 3



Genetics Patterns of Inheritance - Saddleback College

• Albinism • Chromosome 11 • 1/22,000 Recessively Inherited Disorders • Tay Sachs Disease • Chromosome 15 • Lipid accumulation in brain • Occurs:

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