1. ALBINISM Greer Manton, Sydney Gilbert & Monica Starbinski 2/1/10 – Period 2

2. Please be respectful during this PowerPoint. The photos you may see today are unlike many others. Keep in mind that they are of real people, and you never know if someone has a person close them that has this. Thank You, Sydney, Monica and Greer

3. What Chromosome? Albinism is a genetic order, which is caused by a gene on the ninth X (female) chromosome.

4. Alleles Alleles – an alternative form of a gene, which is located on a specific part of a certain chromosome. 2 alleles per human gene. Recessive (aa): -trait will only appear if a dominant allele is not present. -homozygous Dominant (AA, Aa): -overpowers the recessive allele. -heterozygous

5. Summary Of Albinism Albinism – a rare, inherited, disease that you are born with, causing a lack in pigment or melanin. Usually, the person’s hair, eyes, and skin are affected. Symptoms – Extremely light colored skin light/white colored hair pale blue/grey eye color, sometimes even pink very high risk of sunburn and skin cancer vision problems *Interesting Facts* There is no cure for Albinism, but precautions can be taken to alleviate the symptoms. - Staying out of the sun - contacts or seeing an optician

6. Mode Of Inheritance Albinism is recessive. A male would have to inherit one affected X chromosome and females would have to inherit two affected X chromosomes to have the disorder. It is not dominant because you do not get it every time, if one parent is a carrier. Both parents must contain the gene, whether they have the disease or not. It is autosomal because you need two copies of the affected gene in order for albinism to occur.

7. Punnett Squares A – dominant (normal gene) a – recessive (affected albinism gene) A a aa a A a A aA A A Aa aa Aa aaAa

8. Probabilty Ratios 1 : 2 : 1 1aa : 2Aa : 1AA A a A a Percentages 25% : 50% : 25% 25% aa : 50% Aa : 25%AA AaAA aaAa

9. Genotype and Phenotype Probability A A a a Phenotype -Ratios – 3 no albinism : 1 albinism -Percentages - 75% no albinism : 25% albinism Genotype - Ratios – 1AA : 2Aa : 1aa - Percentages – 25%AA : 2Aa :aa AaAA aaAa

10. Hypothetical Pedigree Key White – Healthy unaffected person. May carry one albinism gene. Orange – Affected with albinism, has two of the damaged genes Star – female Rectangle - Male LauraJonathon Andrew LeahNick Claire George Mary Max KimAshley Emma

11. Meaning of the Albinism Punnett Square AA – means that both genes are normal and they dominate. Aa – means that one gene is normal and one is affected with albinism. But since there is a normal gene that is dominant, it overpowers and the person is unaffected. aa – means that both genes are affected and the person has albinism Phenotype (what is SEEN) if AA then normal brown hair is present if Aa then normal brown hair is present but the person is a carrier of the white hair gene if aa then the person has white hair. Genotype (what is in the GENES) AA – Homozygous Dominant Aa – Heterozygous Dominant aa – Homozygous Recessive

12. Student Practice Aa a a Genotype: Ratio – Percentages – Phenotype: Ratio – Percentages – aa Aa 2 albinism : 2 no albinism 50% albinism : 50% no albinism 50% aa : 50% Aa 2 aa : 2 Aa

13. Hypothetical Pedigree (Student Practice) Choose a Female and a Male Who is married to who The children they have And probability of them being affected. The Rest is up to you! Key: Pick 2 colors. One for non effected One for affected

14. Pedigree Question and Answer: 1.How many affected parents are needed to produce a child with albinism? – 2.What are the chances that the next generation of children will get albinism if only one parent has the bad gene? - 3.If both parents carry the gene what’s the chance that the child will not get albinism? - Two parents both with the affected gene. no chance. 50% chance