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Albinism A Genetic Disorder

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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  1. AlbinismA Genetic Disorder Gabby Badurek and Stef Amedrano Period 6/7

  2. 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

  3. Albinism’s Chromosome OCA1 is located in Chromosome 11 . Chromosome 11 Location of OCA1 on Chromosome 11

  4. 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.

  5. 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.

  6. Punnett Squares a a a A A A a A

  7. Punnett Squares and Ratios a A • Ratios- • 1 2 1 • AA | Aa | aa A a Percentages- 25% 50% 25% AA | Aa | aa

  8. 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

  9. 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

  10. 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

  11. Pedigree Gabby Tyler Ventura Jessica Kevin Steph Yvenson Stef Emma Jeff Purple- Fine. NO ALBINISM! Pink- Not fine. ALBINISM PRESENT! Rectangle- Male Oval- Female

  12. 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?

  13. THE END 

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