ࡱ> IKH Kbjbjޤ 4,ƴƴK?????SSSS<Se+p4+ + + + + + +-/ +? +??+&&&j??+&+&&)|\*E0rS^F)*5+0e+)00$\*0?\*& + +>e+0 : Medical Terminology: Genetic Diseases Web Quest Genetics Overview:  HYPERLINK "https://genographic.nationalgeographic.com/science-behind/genetics-overview/" https://genographic.nationalgeographic.com/science-behind/genetics-overview/ The human body is made up of ________ trillion cells. Our ____________ contain a blueprint of how those cells will function and determine the physical characteristics, or ____________, we will exhibit. Our genetic material (DNA) is contained within each cell in structures called ______________________. These chromosomes carry genetic information in long strands of DNA called ____________. Humans have _____ pairs of numbered chromosomes and a single pair of __________ chromosomes for a total of __________ chromosomes. Problems arise when errors occur in these genes called mutations. Cystic Fibrosis:  HYPERLINK "http://www.cff.org/AboutCF/" http://www.cff.org/AboutCF/ CF is an inherited chronic disease that affects the _________ and digestive tract. A defective gene causes the body to produce thick, sticky ___________ that clogs the lungs and pancreas. List at least two symptoms: _______________________________________________________ More than __________ of CF population is 18+ years old. CF can be treated with drug and physical therapy, but not cured. Down Syndrome:  HYPERLINK "http://www.ndss.org/Down-Syndrome/" http://www.ndss.org/Down-Syndrome/ Down Syndrome occurs when an individual has ____________ copies of the 21st chromosome, called trisomy. It is the most commonly occurring chromosomal condition, with 1 in ________ infants affected. Common physical symptoms include: low muscle tone, small stature, upward slanting __________, and deep transverse crease across the ____________. While all individuals with Down Syndrome have __________________ (mental) delays, many lead active and productive lives in the community. Duchenne Muscular Dystrophy:  HYPERLINK "http://www.mda.org/disease/DMD.html" http://www.mda.org/disease/DMD.html Also known as pseudohypertrophic dystrophy, DMD is a genetic degenerative disease that affects the _____________________ muscles. It is caused by an absence of the protein, ___________________, and inherited mostly by male children from their ______________ (women are typically symptomless carriers). Thus, it is an X-linked recessive disorder. DMD eventually affects all muscles, including the _______________ and the survival rate is rare beyond the ___________. Hemophilia:  HYPERLINK "http://www.nhlbi.nih.gov/health/dci/Diseases/hemophilia/hemophilia_what.html" http://www.nhlbi.nih.gov/health/dci/Diseases/hemophilia/hemophilia_what.html Hemophilia is a rare ______________ disorder in which the blood doesnt clot normally. Other Names: Hemophilia B is also known as _____________________ disease. Causes: Hemophilia is X-linked and is caused by a defect in a gene that determines how the body makes ______________ factors. Sxs: Major symptoms include excessive bleeding and easy _______________. Tx: Main treatment for hemophilia is ______________________ therapy, which puts missing clotting factors back into the blood. Sickle Cell Anemia:  HYPERLINK "http://www.mayoclinic.com/health/sickle-cell-anemia/DS00324" http://www.mayoclinic.com/health/sickle-cell-anemia/DS00324 In sickle cell anemia, the RBCs become rigid, sticky, and shaped like a ______________ moon. The cells then get stuck in small blood vessels which decrease the amount of ____________ that can get to tissues. Symptoms: ________________: chronic shortage of RBCsthus low O2thus fatigue ________________: periodic episodes of severe pain Risk factors: ____________ parents must carry the gene for their offspring to have sickle cell anemia. 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