Pd Date STUDYING PEDIGREES ACTIVITY Introduction: A pedigree is a visual chart that depicts a family history or the transmission of a specific trait They can be interesting to view and can be important tools in determining patterns of inheritance of specific raits. Pedigrees are used primarily by genetic counselors when helping couples decide to have children when there is evidence of a genetically inherited disorder in one or both families. They are also used when trying to determine the predisposition of someone to carry a hereditary disease for example, familial breast cancer. Acie roprocnsj | Asqare presets ‘rl barn SS T ] Avorted ins odo sneer Hacer comost tia 1 parent fo ea chon aS ‘A cls o suc het 7. tect shaded ese 0 dost not Abarzonal ne conpecing amelo | ‘onde fomal ropronans morioge. A shaded ciclo or Ee ‘The Components of a Pedigr Squares are used to indicate males in a family. Jes are used to indicate females. O If the individual is “affected” by the trait (dominant or recessive) we darken the shape. 2 e A ling between a male and a female indicates a marriage or union. | =@ A line drawn down from the marriage line indicates offspring. Sometimes, you will see some shapes filled in only half way - this notation indicates a hybrid (heterozygous) or carrier of the trait.Analyzing Simple Pedigrees: A pedigree is just like a family tree except that it focuses on a specific genetic trait. A pedigree usually only shows the phenotype of each family member. With a little thought, and the hints below, you may be able to determine the genotype of each family member as well! Hints for analyzing pedigrees: 1) If the individual is homozygous recessive, then both parents MUST have at least one recessive allele (parents are heterozygous or homozygous recessive). 2) If.an individual shows the dominant trait, then at least one of the parents MUST have the dominant phenotype. This one will be pretty obvious when you look at the pedigree 3) If both parents are homozygous recessive, then ALL offspring will be homozygous recessive. NOTE: Ina pedigree, the trait of interest can be dominant or recessive. The most harmful genetic conditions are only seen when an individual is homozygous recessive - examples cystic fibrosis, Falconi anemia (a blood disorder), albinism (a lack of pigmentation), and phenylketonuria (a metabolic disorder). Some genetic conditions are caused by dominant alleles (and may therefore be expressed in homozygous dominant or heterozygous individuals)- examples: polydactyly (presence of extra fingers), achondroplasia (a type of dwarfism), neurofibromatosis (a nervous disorder). For Questions 1-9, use the pedigree chart shown below. Some of the labels may be used more than once. A e a b. 2. A female ee e@admo bo 4, A person who expresses the trait 5. A person who does not express the trait 6. A connection between parents and offspring 4 e $ 7. How many generations are shown on this chart? Assuming the chart above is tracing the dominant trait of "White Forelock (F)" through the family. F is a tuft of white hair on the forehead. ___8. What is the most likely genotype of individual “A”? (FF, Ff or £?) ___9. What is the most likely genotype of individual “C”? (FF, Ff or ff?)Example 1: Tracing the path of an autosomal recessive trait Trait: Falconi anemia Forms of the trait: a ‘The dominant form is normal bone marrow function - in other words, no anemia. a The recessive form is Falconi anemia, Individuals affected show slow growth, heart defects, possible bone marrow failure and a high rate of leukemia, A typical pedigree for a family that carries Falconi anemia. Note that carriers are not indicated with half- colored shapes in this chart George Alene Q S rs, Tom Sem ‘Wilma Ann Michael rt O 7 ff ‘Tina Daniel Alan rf Christopher F Analysis Questions. To answer questions #1-5, use the letter "f" to indicate the recessive Falconi anemia allele, and the letter "F" for the nonmal allele. 1. What is Arlene's genotype? 2. What is George's genotype? 3. What are Ann & Michael's genotypes? 4, Most likely, Sandre's genotype is . 5. List three people from the chart (other than George) who are most likely carriers of Falconi anemia.“Example 2: Tracing the path of an autosomal dominant trait ‘rait: Neurofibromatosis Forms of the trait: A The dominant form is neurofibromatosis, caused by the production of an abnormal form of the protein neurofibromin. Affected individuals show spots of abnormal skin pigmentation and non-cancerous tumors that can interfere with the nervous system and cause blindness, Some tumors can convert to a cancerous form. A. The recessive form is a normal protein - in other words, no neurofibromatosis. A typical pedigree for a family that carries neurofibromatosis is shown below. Note that carriers are not indicated with half-colored shapes in this chart. Use the letter "N" to indicate the dominant neurofibromatosis allele, and the letter "n" for the normal allele. oT] L 2 | CI] O © 3 nn Analysis Questions: 1. Is individual #1 most likely homozygous dominant or heterozygous? Explain how you can tell. 2. What is the genotype of individual #37 3. Can you be sure of the genotypes of the affected siblings of individual #3? Explain.Name Genetics Practice Problems: Pedigree Tables Remember the following when working pedigree tables: 1) Circles are females and squares are males. 2) A shaded circle or square indicates that a person has the trait. The pedigree seen below is for colorblindness. Shaded individuals are colorblind. First, determine the probable genotype of persons 1 - 15; then, answer the questions below the table. Ore Olé OW OW OOF q1®Q i © How did you determine the genotype of the mother at 32 Number 8 was colorblind just like his father. Where did the son at 8 get his allele for colorblindness? Neither numbers 1 nor 2 were colorblind. How did they have a colorblind son (6)? ‘What must be the genotypes of the parents of a colorblind daughter? Explain, Ifnumber 13 marries a normal man, what is the probability that their sons will be colorblind?Queen Victoria was the world’s most famous carrier of hemophilia. Her son, Leopold, and two carrier daughters, Alice and Beatrice, spread the gene fairly widely through the royal families of Europe, Prussia and Russia. Fortunately, no modern monarchs have inherited the allele. Indicate the probably genotype of each of the people below. Remember, hemophilia is a sex-linked trait and shaded individuals have the disease. Seward ase Leopols Resune George Vi wiswiamar ane Ales atiease and Go Heinteish The pedigree table below shows the blood types of three generations of family members. Notice that some of the blood type phenotypes have been given to you. What is the genotype of the individuals 1 - 6? Give the probable genotype of all other family members.The trait represented by the colored circles and squares below is inherited asa dominant allele. ‘This is n Linked trait, Shaded individuals show the dominant trait, What is the probably genotype of ‘h individual? (3, 9] @) Are there any homozygous dominant individuals in the pedigree above? How do you know? Whats the probability of the trait appearing in offspring if 7 should marry 9? What is the probability of the trait appearing in offspring if 8 should marry 10?edigree Worksheet Name 1 2 oa Huntington’s Disease 1 2 u 4L 4 5 3 T 9 |. Which members of the family above are afflicted with Huntington’s Disease? There are no carriers for Huntington’s Disease- you either have it or you don’t. With this in mind, is Huntington's disease caused by a dominant or recessive trait? _ 3. How many children did individuals I-1 and 2 have? ___ 4. How many girls did I-1 and 11-2 have? ___ _ How many have Huntington’s Disease? 5. How are individuals III-2 and II-4 related? 1-2 and Il-5? 5, The pedigree to the right shows a family’s pedigree for Hitchhiker's Thumb. Is this trait dominant or recessive? O 7. How do you know? es 2 n 8. How are individuals 111-1 and III-2 related? 4 9. How would you name the 2 individuals that m O have hitchhiker’s thumb? __ Vv 10. Name the 2 individuals that were carriers of hitchhiker’s thumb. 11. Is it possible for individual IV-2 to be a carrier? Why? 12. The pedigree to the right shows a family’s pedigree = for colorblindness. Which sex can be carriers of 1 Ho seh colorblindness and not have it? 13. With this in mind, what kind of trait nm colorblindness (use your notes)? 14, Why does individual IV-7 have colorblindness? : « OOOmm 15. Why do all the daughters in generation Il carry the colorblind gene? _ 16, Name 2 IV generation colorblind males. / 6 O a 0 ®Name cties Pedigree Worksheet A pedigree is a chart of a person’s ancestors that is used to analyze genetic inheritance of certain traits especially diseases, The symbols used for a pedigree are: © _ female, unaffected male, unaffected @ female, affected HM omale, affected ‘+ Siblings are placed in birth order from left to right and are labeled with numbers. + Each generation is labeled with a Roman numeral, © Example: we would name an individual II-3 if he/she was in the second generation and the 3% child born oo 1 Hi } e Oo 10203 4 5 Try to identify the genotypes of the following individuals using the pedigree above. (homozygous dominant, homozygous recessive, heterozygous) + 3 +L: Il + 4: 1, Is this trait dominant or recessive? Explain your answer. 2. How can you know for sure that individuals II-3 and II-4 are heterozygous? 3. Brown eyes are a dominant eye-color allele and blue eyes are recessive. A brown-eyed woman whose father had blue eyes and whose mother bad brown eyes marries a brown-eyed man whose parents are also brown- eyed. They have a son who is blue-eyed. Please draw a pedigree showing all four grandparents, the two parents, and the son. Indicate which individuals you are certain of their genotype and where there are more than one possibilities.