A2.1.1.StudentResponse



Activity 2.1.1: Student Response Sheet Part I: Genetic Testing Pre-SurveyBefore 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.I feel it is a parent’s right to test a young child’s predisposition to genetic diseases.TRUEFALSEI 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.TRUEFALSEI feel all newborn babies should be screened for all known genetic disorders.TRUEFALSEI 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.TRUEFALSEI 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.TRUEFALSEPart 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 DisorderDescriptionExample(s) - include information about the cause of the disease as well as how the disease affects the patient. Single Generecessivedominantsex-linkedresult 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, Tay-Sachs disease, myotonic dystrophy, Duchenne muscular dystrophy, Fragile X syndrome and spinal muscular atrophy.Multifactorialgenetically linked disorder that is not purely the result of heredity; they are the result of multiple gene mutations and environmental factors. cancer, diabetes, heart diseaseChromosomalchromosome anomaly, abnormality or aberration is a missing, extra, or irregular portion of chromosomal DNADowns, turners, trisomy 18 (Edwards)Mitochondrialdisorders 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.Diabetes, Lebers, Leighs, Myoneurogenic gastrointestinal encephalopathy (MNGIE) , Myoclonic Epilepsy with Ragged Red Fibers (MERRF), 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 Fibrosishereditary 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 Diseasea hereditary disease marked by degeneration of the brain cells and causing chorea and progressive dementia.Down Syndromea 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 neuropathyLeber’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 adultAlzheimer’s Diseaseprogressive 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. ................
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