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Heredity Teachable Unit: Mendelian Inheritance. Group 6: HHMI SI, 2011, Yale University Bob O’Donnell and Kevin Militello (SUNY Geneseo) Cintia Hongay and Jim Schulte (Clarkson) Anne Dranginis and Chris Bazinet (St. John’s, New York) Facilitator Pete Mirabito (University of Kentucky).
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Heredity Teachable Unit: Mendelian Inheritance Group 6: HHMI SI, 2011, Yale University Bob O’Donnell and Kevin Militello (SUNY Geneseo) Cintia Hongay and Jim Schulte (Clarkson) Anne Dranginis and Chris Bazinet (St. John’s, New York) Facilitator Pete Mirabito (University of Kentucky)
Teachable Tidbit: Case-Study in Human Genetics Recently completed experiments with peas and flies (Mendel’s two laws) How can we learn about human genes when we cannot do controlled crosses?
A Case Study in Human Genetics Goal: apply principles of Mendelian genetics to human inheritance Learning Outcomes: You will be able to determine the mode of inheritance from pedigrees. You will be able to apply rules of probability to pedigrees. In the following video, you might observe an important feature of the disease.
In the video, what observations did you make? Please brainstorm.
Pedigree Symbols Carrier female
Royal Family Pedigree Victoria Princess of Saxe-Coberg 1786-1861 Edward Duke of Kent 1767-1820 Victoria Queen of England 1819-1901 Albert 1819-1861 Edward VII Of England Frederick Alexandra Louis of Hesse Louise Arthur Leopold Beatrice Henry Victoria Alice Alfred Helena Helen Alice ofAthelon Irene Sophia of Greece Lady May Abel Smith Eugenic Maurice Leopold George V Henry Alix Nikolas of Russia Alfonso XIIIof Spain Wilhelm Fred George VI Alfonso Alexie Prince Sigmund of Prussia Henry Marie Anastasia Rupert Gonzalo Waldemar Olga Tatiana Princess Margaret Queen Elizabeth Juan Carlos Prince Phillip (adapted from a case study by Yelena Aronova-Tiuntseva and Clyde Freeman Herreid University at Buffalo, State University of New York)
What type of inheritance does the pedigree suggest? • X-linked dominant • X-linked recessive • Y-linked • autosomal recessive • autosomal dominant X X X
Who are the carriers? XHY I. II. III. IV. V. XhY XhXH XhXH XhXH XhY XHY XHY XHY XHY XhY XhY XHY XHY XHY XHY XhY XhY XHY XHY XHY
If a hemophilic male marries an unaffected female (non-carrier), what is the probability that they have an affected child? • 0 • 0.25 • 0.50 • 0.75 • 1.00 Thus, the correct answer is 0
If a hemophilic male marries an unaffected female (non-carrier) and they have a daughter, what is the probability that she will be a carrier? • 0 • 0.25 • 0.50 • 0.75 • 1.00 Thus, the correct answer is 1
Summary1. Hemophilia is an X-linked recessive disorder2. Hemophilia is typically expressed in males and carried by females3. Hemophilia affects all races and ethnic groups equallyHW Assignment: Construct a pedigree of a different X-linked disease: SCID by going to homework 3 at course management site http://ghr.nlm.nih.gov/condition/x-linked-severe-combined-immunodeficiency
Assignment: Construct a pedigree of a different X-linked disease:SCID Draw a pedigree and identify: carriers, affected individuals, informative individuals , and individuals of unknown genotype. Calculate the probability that a female of unknown genotype is a carrier. The mating pair is a carrier woman and an unaffected male. They have 5 daughters and 3 sons: Daughter 1 gets married and has 3 girls and one boy who dies in infancy. Daughters 2 and 3 get married and have two boys each that go on to marry and have one boy each that lives to be an adult. Daughter 4 gets married and has 4 daughters and no sons. Daughter 5 has three sons and two daughters. One of the sons dies in infancy.