Albinism a genetic disorder
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Albinism A Genetic Disorder. Gabby Badurek and Stef Amedrano Period 6/7. About Albinism. Albinism is a disorder that affects the skin, hair, and eyes. The hair, eyes, and skin usually have no pigment(color). Symptoms: No color in hair, skin, or iris of the eyes.

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Albinism A Genetic Disorder

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AlbinismA Genetic Disorder

Gabby Badurek and Stef Amedrano

Period 6/7


About Albinism

  • Albinism is a disorder that affects the skin, hair, and eyes.

  • The hair, eyes, and skin usually have no pigment(color).

  • Symptoms:

    • No color in hair, skin, or iris of the eyes.

    • Lighter hair color and skin.

    • Patch, or missing skin color.

  • Interesting Facts:

    • Sometimes the eye color can change

    • People with albinism are sensitive to light (photophobic)

    • Other forms of Albinism are involved with symptoms of other disease


Albinism’s Chromosome

OCA1 is located in Chromosome 11.

Chromosome 11

Location of OCA1 on Chromosome 11


Mode Of Inheritance

Albinism is Autosomal Recessive

Autosomal Recessive- Two copies of the abnormal gene must be present in order for the disease or trait to develop.


Alleles

  • Allele- Alternative forms of a gene for each variation of a trait of an organism.

  • One from mother, One from Father.

  • Recessive- aa

    -Trait that can be masked by the dominant form of a trait.

  • Dominant- AA

    • Observed trait that masks the recessive form of a trait.

  • Carrier- Aa

    • Trait that has both a good gene and bad gene, but doesn’t have the bad gene effect.


Punnett Squares

a

a

a

A

A

A

a

A


Punnett Squares and Ratios

a

A

  • Ratios-

  • 1 2 1

  • AA | Aa | aa

A

a

Percentages-

25% 50% 25%

AA | Aa | aa


Punnett Squares

A

a

A = Dominant Allele

a = Recessive Allele

A

Genotype: In Gene

AA = Homozygous

Dominant(not albino)

Aa = Heterozygous dominant(not albino)

aa = Homozygous recessive(albino)

a

Phenotype:

AA= Not albino

Aa = Not Albino but Gene Carrier

aa= No Melanin/Albino


Punnett Squares

A

a

Phenotype- Physical (Seen)

Ratios:

1 Albino ; 3 Not Albino

Percentages:

25% Albino ; 75% Not Albino

A

a

Genotype- Genes (Genetic)

Ratios:

1AA : 2Aa : 1aa

Percentages:

25%AA: 50%Aa: 25%aa


Student Practice!

A

a

Genotype:

Ratio:

1 : 1 : 2

AA : Aa : aa

Percentage:

25% : 25% : 50%

AA : Aa : aa

Phenotype:

Ratio:

2 NO Albinism; 2 Albinism

Percentage:

50% No Albinism; 50% Albinism

a

a


Pedigree

Gabby

Tyler

Ventura

Jessica

Kevin

Steph

Yvenson

Stef

Emma

Jeff

Purple- Fine. NO ALBINISM!

Pink- Not fine. ALBINISM PRESENT!

Rectangle- Male Oval- Female


Student Practice

Key

Circle: Female

Square: Male

Pink: Albinism

Purple: Non-Albinism

Gabby

Tyler

Jessica

Kevin

Ventura

Steph

Yvenson

Stef

Emma

Jeff

Questions:

What will happen to the child if both of the parents have recessive genes?

What would 2 results be if Emma(aa) and a male carrier(Aa) had children?

Would the child have a possibility of albinism or not?


THE END 


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