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Raashmi Patalapati, Rizzlyn Melo, Erica Price February 1, 2010 Period 3 Summary of Albinism Inherited disorder Too little, or complete lack of, melanin Shows very pale, white skin and hair. Causes eyes to appear pink as well as creates eye problems. Can occur in humans, animals, or plants. • Three different types of albinism: OCA-1, OCA-2, and OCA-3 • OCA-1: occurs on chromosome 11 •OCA-2: occurs on chromosome 15 •OCA-3: occurs on chromosome 9 Mode of Inheritance The three types of albinism are acquired through the chromosomes. It is an autosomal recessive disorder. Autosomal recessive means that in order to show the disease you must have two of the recessive alleles. Two copies of the gene must be mutated. There is a higher chance of a male showing albinism •Each person has two alleles per gene •One comes from the mother, the other from the father •Dominant and recessive alleles are represented by letters. • Dominant- capital letter •Recessive- lowercase letter •Dominance is when the allele is able to take over recessive alleles. •Recessiveness is when the allele can be taken over by a dominant allele. •Punnett squares represent a particular cross of the parent’s genes to predict the reproduced outcome. •Female is on the left and father is represented on the top. a aa a aa aa a aa aa A aa A AA Aa a Aa aa A aa a Aa aa a Aa aa a aa A Aa Aa a aa aa •Ratios - 2 Aa: 2 aa a aa A Aa Aa a aa aa •Percentages - 50% Aa: 50% aa Letters in Punnett Squares •What these letter mean! AA? Aa? aa? If A represents the normal healthy allele and a represents the recessive albino allele, then we can assume that: •Phenotype a aa A Aa Aa a aa aa AA= doesn’t show Aa= doesn’t show aa= shows •Genotype AA= not a carrier Aa= carrier aa= carrier Punnett Squares(cont.) •Phenotype -Ratios- 2 shows: 2 doesn’t show - Percentages- 50% shows : 50% doesn’t show •Genotype - Ratios- 2 Aa: 2 aa - Percentages- 50% carries, but doesn’t show: 50% carries and shows = 100% carries Student Practice Punnett Square Practice Father’ genes: AA; Mother’s genes: Aa M o t h e r ’ s g e n e s Father’s genes a a Genotype: Ratio: Percentage: Phenotype: Ratio: Percentage: -When the students are finished, ask them to share their answers with you. Use the custom animation option to hide the answers until student theirs with you. s have shared Autosomal Dominant Circle = female Square = male All White= homozygous recessive gene, person is fine, has 2 copies of the “healthy” gene All Green= homozygous dominant, person have disorder and 2 copies of the “bad” gene Half Green/Half White= because this is a dominant disorder (rules of dominance), the person has the disease and only has one copy of the “bad” gene and one copy of the “healthy” gene. Autosomal Recessive White= Person is fine. May possibly carry the recessive “bad gene.” Can have one “health” and one “bad” gene of two “healthy genes.” Black= Person is affected. Has 2 “bad” genes. Color gene is “bad” on x chromosome Color gene is “healthy” on x chromosome Color gene is “healthy” on x chromosome One gene is “bad”, one gene is “healthy” on the x chromosome Female is fine. 3 generations, (I: two parents II: 3 children and two spouses III: 4 children, any combo ( explain how to READ your punnett square) Student Practice (you provide generation I, 2, and 3) Show a pedigree like this, but you fill in the rest using a different sample than the previous page. You choose male and female, who is married to who (you have to add 2 spouses, and who has children in the Generation III. I II Example: ***Make a key: circle= square= shaded in= not shaded in= half shaded in= III Example: ***Ask 3 questions (type them on this page) to make sure the students can analyze a pedigree. (NO yes/no answers) 1. 2. 3.