Introducing
Prezi AI.
Your new presentation assistant.
Refine, enhance, and tailor your content, source relevant images, and edit visuals quicker than ever before.
Trending searches
Loading…
Albinism
7
Transcript
Albinism
By: Heather McClure
Pedigree Chart
*Autosomal Recessive
Aa
AA
Aa
aa
Aa
AA
NOT JUST RED EYES
Brief Description
Are there carrier forms and/or lethal forms of Albinism?
Aa
Melanin?
"Melanin is formed in the melanosome organelle of the melanocyte... The melanin pathway consists of a series of reactions that converts tyrosine into 2 types of melanin, as follows: black-brown eumelanin and red-blond pheomelanin. Genetic mutations affecting proteins/enzymes along this pathway inevitably result in reduced melanin production."
- Also referred to as hypopigmentation
- Inherited genetic condition
- Lack of melanin (color to skin, hair, eyes)
- May also have eye problems and lead to skin cancer
- Many types based on severity
Aa
aa
AA
- There are no lethal forms
- There are carrier forms
Tyrosinase is coded on chromosome 11
Types of Albinism
- Affects only the eyes
- Ocular Albinism (OA)
- Does not affect the skin or hair
- Results from an x-linked chromosomal inheritance; GPR143
- Occurs mostly in boys
- Oculocutaneous Albinism (OCA)
- Affects the eyes, hair, and skin
- Several different forms:
- OCA1a: no pigment & no active tyrosinase
- OCA1b: some residual tyrosinase activity & some pigment *may have the ability to sun tan
- OCA2: Affects the p-protein & is more common in African descendents. Have some pigment
- OCA4: Clinically indistinguishable from OCA2. Involves the SLC45A2 gene
- Hermansky-Pudlak Syndrome (HPS)
Rare Form
Increased among Puerto Rican descendents
May Involve:
Bleeding disorders, bruising, lung problems, and intestinal disorders
- Chediak-Higashi Syndrome
- Rare form
- Abnormality in certain types of white blood cells, lowering resistance to infection
- Griscelli Syndrome
- Extremely rare form
- Only 60 known cases
- Involves immunodeficiency and may have neurological problems
How can this be treated?
How can this be avoided?
- For eye problems glasses can be given to help sight but nothing can help create more melanin
- It cannot be avoided if both parents have the recessive allele
- Genetic counseling if there is family history
- It can be tested to see if a child has the chance of getting Albinism: Hair-bulb pigmentation test or Tyrosinase test
Choose a template
Presentations from around the world
Learn more about creating dynamic, engaging presentations with Prezi