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Name: _________________________________________________ Date: _______________ Period: ________ Biology Notes: Pedigree Charts Directions: Fill in the blanks as we cover the topic in the PowerPoint. Genetic Pedigrees • Genetic pedigrees are like ____________________ ____________________ • They show ____________________, but also can _______________ traits throughout a _______________ • Squares = ____________________ • Circles = ____________________ - Sometimes you will be given a scenario where the gender of a person/people is unknown, in this case you can randomly decide the gender or you can use a triangle to represent this unknown. • Shaded = __________ the trait (usually a disease) - Sometimes you might see a half shaded shape or a shape with a dot in the center of it. This means that that person is heterozygous/carrier. You can use this if you would like – I think it is helpful. • Let’s create a simple pedigree…using PKU (Phenylketonuria) as an example In case you were wondering… PKU is caused by a mutation in a gene • PKU is a ___________________ disease where sufferers ______________ on chromosome 12. The gene codes a protein needed to properly _______________ certain foods. for a protein called PAH (phenylalanine hydroxylase), an enzyme in the liver. It can lead to brain damage or be fatal if untreated. This enzyme breaks down the amino acid phenylalanine into other products the body needs. When this gene is mutated, the shape of the PAH enzyme changes and it is unable to properly break down phenylalanine. Phenylalanine builds up in the blood and poisons nerve cells in the brain. Creating a Pedigree 1) Manny and Rosa are married and both are healthy. 2) They have 3 children. 3) Their oldest child, Jacob, has a recessive disorder called PKU. 4) Their middle child Erica and their youngest Matthew are healthy. 5) If healthy is dominant to PKU, fill in the missing genotypes: Hint: make a key, start with what you know, & label the shapes with the names of the people in the scenario. If you get stuck create a Punnett square to help you figure out all the possible genotypes. If you don’t know the second allele use a “?” as a place holder. Key H = ____________ h = ____________ The Next Generation 5) Erica meets healthy Moe at college and the two become married. 6) Erica and Moe have 2 daughters. 7) Their youngest daughter Jamie shows signs of PKU while Amy does not. 8) Fill in the genotypes of the next four individuals adding to the pedigree above, start with what you know… Pedigrees continued… • This family has a history of sickle cell disease in their family. • Fill in the genotypes of every person in this family. • Hint: make a key, start with what you know (the shaded shapes), & label the shapes with the names of the people in the scenario. If you get stuck create a Punnett square to help you figure out all the possible genotypes. If you don’t know the second allele use a “?” as a place holder. Key H = ____________ h = ____________ Review 1) Which symbols show males? _____________________ Females? _____________________ 2) What does it mean if persons 1, 10, and 12 are colored grey? ____________________________________________________ 3) How are persons 1 and 8 related to each other? ____________________________________________________ ____________________________________________________ ____________________________________________________ 4) Which two people are not genetically related to this family? ____________________________________________________ 5) List the genotypes for as many people as possible (H = healthy; h = disease) You can either write the genotypes within the shapes on the pedigree or list them by number below: