Xeroderma pigmentosum a2 arkadiy f, morgan f
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Xeroderma pigmentosum a2 arkadiy f, morgan f

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Xeroderma pigmentosum a2 arkadiy f, morgan f Xeroderma pigmentosum a2 arkadiy f, morgan f Presentation Transcript

  • Xeroderma Pigmentosum Genetic Disorder Project by Morgan F. and Arkadiy F.
  • The Basics
    • Xeroderma Pigmentosum (XP)  is a genetic disorder characterized by sun sensitivity. In other words, individuals with XP are extremely sensitive to the Sun’s UV rays.
    • XP is actually the name of 8 different gene abnormalities in 8 locations.
  • Inheritance
    • XP is inherited in an autosomal recessive manner.
    • If someone is heterozygous, they will also be asymptomatic.
    View slide
  • Pedigree
    • Here is a short pedigree of a family with XPC.
    View slide
  • Impact on Life
    • XP has a tremendous impact on day-to-day life.
    • Affected individuals cannot go out in sunlight because of the UV radiation.
    • Special windows are required everywhere.
    • Some light bulbs must be avoided.
    • Constant attention to making sure that skin is not exposed to UV light.
  • Treatment
    • No “treatment” for XP exists as of yet.
    • The best thing to do is to avoid contact with UV light, thus preventing skin damage. Special suits can block out UV rays.
  • Symptoms
    • Symptoms include: getting a sunburn quickly, freckles, dry skin
    • Odds for cancer increase by more than 1000!
    • The average age for developing the first skin cancer is less than 10 years.
  • Types of XP
    • There are several different gene mutations that cause XP. We will be focusing on the gene known as XPC.
  • Where XPC is
    • XPC is located on the 3 rd chromosome, between base pairs 14,186,646 and 14,220,171.
  • XPC
    • Due to a mutation in the XPC, or Xeroderma Pigmentosum, complementation group C gene.
    • Codes for a protein involved in repairing damaged DNA.
    • DNA that is damaged by UV rays can’t be fixed.
  • Research
    • Protein Therapy
      • Cream that stimulates “bad” proteins.
      • Like insulin for diabetics.
    • Gene Therapy
      • It is possible to replace mutated gene.
      • Then add working copy of gene.
  • Other Interesting Facts
    • Certain types of sunblock can’t be used by people with XP, because it absorbs light instead of reflecting it.
    • Xeroderma Pigmentosum is also known as ‘Vampire Syndrome’.
  • Go Here for More Information
    • www.xps.org
    • http://joomla.xpsupportgroup.org.uk/
    • http://www.kumc.edu/gec/support/xeroderm.html
  • THE END.