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Activity 2.1.1: Student Response Sheet Part I: Genetic Testing Pre-Survey Before we begin our study of genetic disorders and genetic testing, think about each of the following scenarios. Circle true or false in each case and explain why you chose this option. 1. I feel it is a parent’s right to test a young child’s predisposition to genetic diseases. TRUE FALSE 2. I feel I would like to be tested now to find out if I might have kids with a disease even if it would not affect my own health. TRUE FALSE 3. I feel all newborn babies should be screened for all known genetic disorders. TRUE FALSE 4. I feel I would like to be tested now to find out if I might eventually develop a disease (in my 30s and 40s) assuming that treatment might lower my risk. TRUE FALSE 5. I feel I would like to be tested now to find out if I might eventually develop a disease (in my 30s and 40s) if no treatment is available. TRUE FALSE © 2010 Project Lead The Way, Inc. MI Activity 2.1.1 Student Response Sheet – Page 1 Part II: What is a Genetic Disorder? Use information from the presentation to help you fill in the “Description” column of the chart. Type of Genetic Disorder Description Single Gene result of a single mutated gene. There are estimated to be over 4000 human diseases caused by single gene defects. Single gene disorders can be passed on to subsequent generations in several ways. cystic fibrosis, sickle cell anemia, TaySachs disease, myotonic dystrophy, Duchenne muscular dystrophy, Fragile X syndrome and spinal muscular atrophy. Multifactorial genetically linked disorder that is not purely the result of heredity; they are the result of multiple gene mutations and environmental factors. cancer, diabetes, heart disease Chromosomal chromosome anomaly, Downs, turners, trisomy 18 (Edwards) abnormality or aberration is a missing, extra, or irregular portion of chromosomal DNA Mitochondrial disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell. Mitochondria are found in every cell of the human body except red blood cells. - recessive - dominant - sex-linked Example(s) - include information about the cause of the disease as well as how the disease affects the patient. Diabetes, Lebers, Leighs, Myoneurogenic gastrointestinal encephalopathy (MNGIE) , Myoclonic Epilepsy with Ragged Red Fibers (MERRF), © 2010 Project Lead The Way, Inc. MI Activity 2.1.1 Student Response Sheet – Page 2 Research the following disorders and match them with the appropriate type of genetic disorder. Duchenne Muscular Dystrophy a severe form of muscular dystrophy caused by a genetic defect and usually affecting boys. Cystic Fibrosis hereditary disorder affecting the exocrine glands. It causes the production of abnormally thick mucus, leading to the blockage of the pancreatic ducts, intestines, and bronchi and often resulting in respiratory infection. Huntington’s Disease a hereditary disease marked by degeneration of the brain cells and causing chorea and progressive dementia. Down Syndrome a congenital disorder arising from a chromosome defect, causing intellectual impairment and physical abnormalities including short stature and a broad facial profile. It arises from a defect involving chromosome 21, usually an extra copy (trisomy-21). Leber hereditary optic neuropathy Leber’s hereditary optic neuropathy (LHON) or Leber optic atrophy is a mitochondrially inherited (transmitted from mother to offspring) degeneration of retinal ganglion cells (RGCs) and their axons that leads to an acute or subacute loss of central vision; this affects predominantly young adult Alzheimer’s Disease progressive mental deterioration that can occur in middle or old age, due to generalized degeneration of the brain. It is the most common cause of premature senility. © 2010 Project Lead The Way, Inc. MI Activity 2.1.1 Student Response Sheet – Page 3