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Osteogenesis Imperfecta (OI)

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The genomics: GTL program is DOE next step in genomics building on data and resources from the Human Genome Project, the Microbial Genome Program, and systems biology ... – PowerPoint PPT presentation

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Title: Osteogenesis Imperfecta (OI)


1
basic genenetics
by group 1
2
an introduction to DNA
DNA STANDS FOR DEOXYRIBONUCLEIC ACID. THIS IS
JUST A CHEMICAL WHICH IS PART OF THE HUMAN BODY.
OFF THIS STRAND OF DNA, YOU WILL SEE A BASE. THIS
IS WHERE ALL OF THE CHEMICALS SUCH AS ADDONINE
AND GUYNINE WILL BE FOUND.
HERE IS A BASE WHERE THE CHEMICALS WILL COME OFF.
3
WHAT ARE CHROMOSOMES AND GENES
Genes are what make you up as a person. A
hereditary unit consisting of a sequence of DNA
that occupies a specific location on a chromosome
and determines a particular characteristic in an
organism. Genes undergo mutation when their DNA
sequence changes
4
how are genes passed on through generations?
Genes are passed on through chromosomes These
come from the parents The parents chromosomes
which they pass onto there child come from there
parents and so on.
5
The Genome Project
  • The genomics GTL program is DOE next step in
    genomics building on data and resources from the
    Human Genome Project, the Microbial Genome
    Program, and systems biology to accelerate
    understanding of dynamic living systems for
    energy and environmental applications.

The Human Project ends in 2003 with the
completion of the human genetic sequence. A
working draft of the entire human genome sequence
was announced in June 2000, with analyses
published in February 2001. An important feature
of this project is the federal government long-
standing dedication.
6
Osteogenesis Imperfecta (OI)
  • Osteogenesis Imperfecta is a genetic condition
    which affects the development of collagen, a
    protein in the bone, skin and other tissues.
  • In OI, defective collagen means that the bones
    are extremely fragile and can fracture as a
    result of everyday movements.
  • Simple movements such as opening a door or
    turning over in ones sleep can cause these
    fractures.

7
How Is OI Passed On?
  • The pattern of inheritance in many in many
    families with OI is autosomal dominant.
  • Each and every child of an affected parent has a
    50 chance of inheriting the faulty gene and of
    having OI.
  • However, there are several hundred different
    mutations which can give rise to OI and many
    people with OI have no family history of the
    condition. This can be a result of spontaneous
    genetic mutation or been inherited in a different
    way.

8
How People Can Be Affected
  • In children with severe OI, a specially adapted
    wheelchair may be their only chance of mobility
    as they are unlikely to stand or walk.
  • People with OI may have blue whites to their
    eyes, discoloured or fragile teeth, loose joints,
    bruising and nose bleeds.
  • They may also have problems with their hearing,
    with their spine and respiratory problems.
  • The peak time for fractures is the first 15 years
    of life.

9
Credits
  • By
  • Arjun Kumar
  • Thomas Spurway
  • Tony Mabbutt
  • Stefan Bertin
  • Dilir Habibi
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