Genetic Assigtment

Name: ________________________________ Genetic Disease Research Assignment – 10 points 1. Choose a genetic disease from the following list: (or choose your own!) • nanophthalmos 4 • indifference to pain • • • nail-patella syndrome Duchenne muscular dystrophy neurofibromatosis, type 1 familial susceptibility to breast-ovarian cancer 1 diastrophic dysplasia familial hypercholesterolemia 3 • • Rett syndrome Huntington disease • • • • Tay-Sachs disease familial susceptibility to breast-ovarian cancer 2 cystic fibrosis (CF) achondroplasia • • • • • • • • • • severe combined immunodeficiency, X-linked hemophilia A hemophilia B phenylketonuria androgen insensitivity syndrome sickle cell disease Wilms tumor 4 2. Go to https://www.omim.org/ and type the disease name into the search bar. 3. Use OMIM to obtain the following information: MIM#: ___________________________ Clinical Features / Phenotypes: __________________________________________________________________________________ __________________________________________________________________________________ __________________________________________________________________________________ __________________________________________________________________________________ __________________________________________________________________________________ __________________________________________________________________________________ ________________ Gene name: _______________________________ Chromosomal Location: _______________________________ ➔ sex-linked, autosomal, or mitochondrial? ____________________________ Normal gene function (if known): _________________________________________________________ Mode of inheritance: ___________________________________ ➔ how many mutant alleles must be inherited to have this disease? _____________ Pedigree: Use one of the free references from OMIM to locate a real pedigree for this disease and paste it below. Hint: look under the “Mapping” section for a publication referring to a family carrying the disease. If the article is not freely available through PMC, try MC Library’s Raptor Search. Reference: Provide the reference list citation for where the pedigree in the previous question was obtained: (e.g., Goodship, J., Malcolm, S., Levinsky, R. J. Evidence that Xlinked severe combined immunodeficiency is not a differentiation defect of T lymphocytes. Clin. Exp. Immun. 83: 4-9, 1991.) Provide specific evidence from the pedigree to support the mode of inheritance: __________________________________________ __________________________________________ __________________________________________