Medical Terminology: Genetic Diseases WebQuest

  • 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:
  • 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:
  • 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:
  • 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:
  • Hemophilia is a rare ______disorder in which the blood doesn’t 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:
  • 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 RBCs…thus low O2…thus fatigue
  • ______: periodic episodes of severe pain
  • Risk factors: ______parents must carry the gene for their offspring to have sickle cell anemia. In the US, it most commonly affects ______and ______.
  • Tx: The only potential cure is a ______.