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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. I feel it is a parent’s right to test a young child’s predisposition to genetic diseases. TRUE 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 I feel all newborn babies should be screened for all known genetic disorders. TRUE FALSE FALSE 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 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 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 -single gene disorders caused by changes or mutations that occur in the DNA sequence of one gene recessive dominant sex-linked Example(s) - include information about the cause of the disease as well as how the disease affects the patient. - gene that produces its characteristic phenotype only when its allele is identical -gene that produces the same phenotype in the organism whether or not its allele identical -allele related to the chromosomal sex of the individual Autosomal Dominant -Familial Hypercholesterolmia -Polycysitc Kidney Disease -Huntington Disease -Hereditary Spherocytosis -Marfan Syndrome Autosomal Recessive -Sickle Cell Anemia -Cystic Fibrosis -Tay-Sachs Disease -Phenylketonuria -Mucopolysaccharidoses -Glycogen Storage Disease -Galactosemia X-LInked -Duchenne Muscular Dystorphy -Hemophilia Multifactorial -combination of environmental factors and mutations in multiple genes -Heart Disease -Diabetes -Obesity Chromosomal -missing or extra copies of genes, or breaks, deletions or rejoinings of chromosomes -Downs Syndrome -Turner Syndrome -Wolf-Hirschhorn Syndrome -Triple X Syndrome -Cri du Chat Syndrome Mitochondrial -mutations in nonchromosomal DNA of mitochondria -Lebers -Leighs -Myoclonic Epilepsy with Ragged Red Fibers (MERRF) -Myoneurogenic Gastrointestinal Encephalopathy (MNGIE) Research the following disorders and match them with the appropriate type of genetic disorder. Record information about each disease in the “Example” column of the chart. Duchenne Muscular Dystrophy -This particular disorder usually affects boys. It is characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue. -This affects the exocrine glands. Thick mucus is produced and therefore blocks the pancreatic ducts and other parts of the exocrine glands. Cystic Fibrosis Huntington’s Disease -In this disease, brain cells have been degenerated and have caused chorea and progressive dementia. -This a chromosone defect of chromosome 21. Intellectual impairment and physical abnormalities are caused. Down Syndrome Leber hereditary optic neuropathy -It is transmitted from the mother to the offspring. Retinal ganglion cells have been degenerated and cental vision is lost. Alzheimer’s Disease -This can occur in middle or old age and it is casued by the degeneration of the brain. http://www.ucsfhealth.org/conditions/hemophilia/signs_and_symptoms.html http://www.medicalnewstoday.com/articles/154880.php