Transcript Osteogenesis Imperfecta (OI)

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.
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
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.
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 longstanding dedication.
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
one’s sleep can cause these
fractures.
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.
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.
Credits






By
Arjun Kumar
Thomas Spurway
Tony Mabbutt
Stefan Bertin
Dilir Habibi