This interrupted case study examines molecular genetic evidence reported in scientific literature to determine the fate of Louis-Charles, son of Louis XVI and Marie-Antoinette of France. Controversy and rumors surrounding the death of Louis-Charles suggested that either he died as a young boy while being held in captivity by the French revolutionaries or he escaped and was replaced by a substitute who died in his place. One individual claiming to be Louis-Charles was Karl Naundorff. Students begin the case by preparing pedigrees for the descendants of Maria Theresa and Francis I, the Holy Roman Emperor, parents of Marie-Antoinette. The pedigrees can be used to introduce the concepts of alleles identical-by-descent and cytoplasmic inheritance patterns. Students then compare mitochondrial DNA sequences and XY chromosome sequences from hair, bone, heart, and blood samples taken from descendants of Marie Theresa, Karl Naundorff and the heart of the boy who died in captivity to determine if the latter was truly Louis-Charles. An optional PowerPoint presentation with clicker questions is available to help guide the classroom activities.
Online activity: imagine you are an investigator looking for genes that influence niicotene addiction. View video interviews, written surveys, and official records for the Marshall family and trace their pedigree.
A powerful tool called pVAAST that combines linkage analysis with case control association has been developed to help researchers and clinicians identify disease-causing mutations in families faster and more precisely than ever before. The researchers describe cases in which pVAAST (the pedigree Variant Annotation, Analysis and Search Tool) identified mutations in two families with separate diseases and a de novo or new variation in a 12-year-old who was the only one in his family to suffer from a mysterious and life threatening intestinal problem.
In this case, developed for an introductory genetics class, students meet a woman whose family has a history of colon cancer. Students create a pedigree based on information from the case and discuss what it means to be genetically predisposed to cancer. Using bioinformatics tools from the NCBI database, students identify and examine the mutation in the woman's APC gene that results in genetic predisposition to colon cancer. Finally, they investigate the biological function of the APC protein to understand why this mutation contributes to the development of cancer and determine whether APC is a proto-oncogene, tumor suppressor gene, or genome stability gene.
ach of the four hallmarks of autosomal dominant inheritance are fulfilled. Each affected individual has an affected parent; there is no skipping of generations. Males and females are equally likely to be affected. About 1/2 of the offspring of an affected individual are affected (the recurrence risk is 1/2). Normal siblings (II-3) of affected individuals have all normal offspring.
This is a website for high school science students. You'll find a variety of interactive quizzes, games and puzzles to practice what you're learning in Grade 9 Science, Grade 10 Science, Grade 11 Biology and Grade 12 Biology. There are also some specific student resources, such as worksheets and slideshows, for each course.