Introduction



PEDIGREES AND KARYOTYPINGNAME _____________DATE ____________Genetic Disorder Research ProjectIntroductionSome disorders come from the environment. For example, diseases like the flu or AIDS are caused by viruses that a person may become infected with. Other disorders are due to mistakes in the genes. A person is born with such disorders. Such disorders are usually inherited from the parents.Assignment GuidelinesFor this project you will research the genetic disorder that was assigned to you in class. When you have researched your disorder type, you will produce a Powerpoint presentation with the information you have collected. The Powerpoint presentation must include 11 slides:1 Title SlideName of the genetic disorderYour name and classPicture9 Information SlidesTitle: 1 of the 9 questions to answer (see other side of this sheet)Answer: answer to the question (bullet points, not sentences)Follow the “Rule of 5” – no more than 5 bullets per slide, and no more than 5 words per bullet.Picture / GraphicReference Slide: all website addresses you used, cited correctly.You will work alone to complete this assignment. You will then present your Powerpoint to the class. The powerpoint must be shared with Mrs. Smith prior to the class and you must also provide a printed copy of your powerpoint slides to Mrs. Smith at the time of presentation.Presentations will take place in random order. Presentation Day: ___________________ My Topic: ______________________________________________________________Questions to be Answered by PresentationThese questions are to be researched for your genetic disorder. Each question should be thoroughly answered in the presentation.Title Slide 1. What is the name of your genetic disorder?Slide 2. What are the specific symptoms of this genetic disorder? Include all the major symptoms.Slide 3. What is the treatment for this disorder? If no treatment is available, what can be done for a person with this disorder?Slide 4. Can this disorder be cured? Explain how it can or why it cannot be cured.Slide 5. How is the disorder inherited? Is it a dominant trait, a recessive trait, a problem with the number of chromosomes, or something else? Explain fully.Slide 6. How common is the disorder? How many people have it? How many get it each year?Slide 7. Is there a certain race it is most common in? Is it more common in men or women?Slide 8. How long is the average life span of a person with this disorder?Slide 9. How is the family of a person with this disorder affected?Slide 10. What have you learned personally from researching this disorder?Slide 11. List all references that you used.RubricTime in class well spent246810Copy of Powerpoint slides provided010Effectively organized: Uses Q&A and “Rule of 5”246810Information is complete246810Shows understanding of knowledge246810Graphics are included246810Visual/Neatness/Spelling/Grammar246810References included010Presentation (eye contact, volume, participation,48121620 questions answered)Total out of 100 points = _________________VIDEO – PEDIGREES VIDEO AND TAKE NOTESPEDIGREESA pedigree is a diagram of family relationships that uses symbols to represent people and lines to represent genetic relationships. These diagrams make it easier to visualize relationships within families, particularly large extended families. Pedigrees are often used to determine the mode of inheritance (dominant, recessive, etc.) of genetic diseases. A sample pedigree is below: INCLUDEPICTURE "" \* MERGEFORMATINET In a pedigree, squares represent males and circles represent females. Horizontal lines connecting a male and female represent mating. Vertical lines extending downward from a couple represent their children. Subsequent generations are, therefore, written underneath the parental generations and the oldest individuals are found at the top of the pedigree.If the purpose of a pedigree is to analyze the pattern of inheritance of a particular trait, it is customary to shade in the symbol of all individuals that possess this trait. Other times, you will see the genotypes of the individuals written inside the circles or squares. If the genotype is unknown or partially unknown, a question mark is used in the pedigree. Patterns of inheritance have the following modes of inheritance: autosomal dominant, autosomal recessive, X-linked (recessive), y-linked.Here is a sample pedigree showing 3 generations:What are the relationships between…1 and 5 Mother (1) and Son (5) 1 and 2_____________________1 and 10 _____________________ 4 and 5 ______________________ 3 and 5 ______________________ 5 and 8 _____________________ 8 and 10 ___________________ __ 1 and 3 ______________________Now that you have had a chance to familiarize yourself with a pedigree chart, you will now apply what you have learned about genetics in the construction of pedigrees for the characters in the “Harry Potter” series.Muggle or Magic: A Human Pedigree ActivityAssume that magical ability (m) is a recessive to non-magical ability (M). A person without any magical abilities is also known as a muggle. Use the key below to answer the questions. If Mr. and Mrs. Weasley are a wizard and a witch, what are their genotypes? Mr. Weasley _____________Mrs. Weasley ________________2. What must be the genotype of all of their children (Bill, Charlie, Percy, Fred, George, Ron, and Ginny)? Why?3. Draw a pedigree for the Weasley family below. Use shading to indicate genotype. Also, write the names and genotypes below each of the circles or squares.Now let’s look at Hermione Granger’s family. Hermione is a witch but her parents are both muggles. What are the genotypes for the three member of the Granger family? Mom _______ Dad______ Hermione______5. Draw a pedigree for the Granger family below. Use shading to indicate genotype. Also, write the names and genotypes below each of the circles or squares.Finally, draw a family pedigree of four generations of Harry Potter’s family. Harry is a wizard. His father, James, was a wizard and his mother, Lily, was a witch. Both of Harry’s dad’s parents had magical abilities; however, Harry’s mother’s parents did not nor does her sister, Harry’s Aunt, Petunia. Petunia is married to Vernon Dursley and they have a son, Dudley. None of the Dursleys have magical powers. Harry?eventually married?Ginny?Weasley and they had three children: James Sirius, Albus Severus, and Lily Luna Potter. Use shading to indicate genotype. Also, write the names and genotypes below each of the circles or squares. For those who only one allele is known, write the known allele and a question mark. Tracing the path of an autosomal dominant traitTrait: NeurofibromatosisForms of the trait: 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.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.Analysis Questions:1. Is individual #1 most likely homozygous dominant or heterozygous? Explain how you can tell.2. What is the genotype of individual #3? How do you know?3. Can you be sure of the genotypes of the affected siblings of individual #3? Explain.*YOUR TURN!!Instructions:1. Draw a pedigree showing all the individuals described in the problem. (Include their names if given.)2. Label the genotypes of as many individuals in the pedigree as possible. 3. Shade in half of the symbol if you know that the individual is heterozygous or a carrier. *Draw your own Pedigree - Case study #1:Condition of Interest: AlbinismAlbinism is a condition in which there is a mutation in one of several possible genes, each of which helps to code for the protein melanin.. This gene is normally active in cells called melanocytes which are found in the skin and eyes. Albinism involves a significant reduction or absence of the production of melanin, giving affected individuals a lack of normal coloration to their skin/eyes.Inheritance Pattern: normal melanin protein is produced by an autosomal dominant allele; albinism results from a lack of melanin and is caused by an autosomal recessive allele. Use the letter A or a to represent dominant/recessive forms of albinism.Two normally-pigmented parents have 3 children. The first child (a girl) and their second child (a boy) have normal pigmentation. Their third child (a girl) has albinism. That girl marries a normally pigmented male and they have four children. The first three (two girls and a boy) have normal pigmentation. Their fourth child (a girl) has albinism like her mother. 21590011620500 *Draw your own Pedigree - Case Study #2:Condition of Interest: Huntington's Disease (also known as HD or Huntington's chorea)Huntington's disease is a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive decline and dementia.Inheritance Pattern: the allele for the normal "Huntingtin" protein is autosomal recessive; Huntington's disease is caused by an autosomal dominant allele which codes for an abnormal form of the "Huntingtin" protein. Symptoms are more severe in homozygous individuals. Use H or h to represent the alleles.5715094043500A normal man (Joseph) marries a woman (Rebecca) who is heterozygous for HD and they have four children. Two of their sons (Adam and Charles) are born healthy without HD. Charles marries a woman without HD and they have a normal daughter. Joseph and Rebecca's daughter Tasha and their last son (James) both have HD. James marries a non-HD woman whose sister and parents also do not suffer from HD. James and his wife have three children - a normal boy, a normal girl, and a son with HD. *Draw Your Own Pedigree - Case Study#3:Trait: blood typeBlood type is determined by the presence of several different proteins found on the surface of red blood cells. Blood type “A” has the A protein; blood type “B” has the B protein; blood type AB has both; blood type O has neither. The +/- indicates another protein called Rh.Forms of the trait: inheritance via autosomal multiple allelism (A, B, or O) results in the blood types A, B, AB or O. The alleles for blood protein A and B are codominant, the "O" allele is recessive to both the A and B alleles.Use AA, AO, AB, BB, BO or OO to represent the genotypes.As a high school project, Maureen decides to trace the inheritance of blood types through her extended family, all the way back to her great-grandmother Katherine. Here’s what Maureen found out….Maureen’s great-grandmother Katherine, has A type blood. Katherine and her husband John had four children – two sons, Michael (who has blood type AB) and David (who has type O blood); a daughter (Jessica) with type O blood and another daughter (Jennifer) with type A blood. Jessica never married; her sister Jennifer did get married and had three sons (one with type A blood, one with type AB blood and one with type O blood). Both of Katherine's sons also get married – Michael marries a woman with type O blood and together they have two daughters (Anna – type A; Leanne – type B); David marries a woman with type A blood, and they have three children (daughter Fran and son Albert who both have type A blood, and a son Matthew with type O blood). Matthew marries Janine and together they have one daughter, Maureen. Maureen knows that her parents both have the same blood type, but she has never yet had a blood test to determine her own blood type. VIDEO – KARYOTYPING VIDEO AND TAKE NOTES ................
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