Study makes case for wider gene testing in bowel cancer And Seven genes for X-linked intellectual disability: New mutations on the X chromosome

1. Study makes case for wider gene
testing in bowel cancer
And
Seven genes for X-linked
intellectual disability: New
mutations on the X chromosome
Biology Folding
Teacher: Lina Martinez
Laura Judith Navarrete Morales
Medicine Student
III Semestrer
2015
UPB

4. Traduction includes : RNAm, RNAt, and RNAr.
RNAm Direction 5´ - 3´. amino terminal to
carboxyl terminal
RNAt at the end 3´ CCA sticks (here amino
acids stick).
RNAr in the ribosomes the proteins are
synthesized
traduction has 3 steps
-initiation
-elongation
-termination
Splicing mechanism
This process is carried out two steps:
First step consists of the excision al the clavage
point 5´ and the bonding of the nitron 5´ end
with an adenine contained within the intron
Second Step is the excision in 3´ and the
simultaneous exon splicing.

5. Study makes case for wider
gene testing in bowel cancer
Bowel cancer is a disease in which malignant
cells are found in the intermediate and longer
portion of the large intestine.
Begins with the formation of a polyp (bump
that forms along with any body membrane)
benign. The most common complaints are in
the advanced stage of the disease.

6. Inherited mutations in a well-known group of genes called the
mismatch repair genes alone accounted for 11% of familial bowel
cancers. Genetic screening to detect defects in these genes has
previously been shown to reduce bowel cancer death rates
Study makes case for wider
gene testing in bowel cancer

7. Study makes case for wider
gene testing in bowel cancer
Is necessary identify new cancer genes that could
be involved in the three quarters of cases where no
mutations in known cancer genes could be
detected.
This is important because up to a quarter of
patients with bowel cancer who have a family
history of the disease could have the causes of their
cancer identified through gene testing.

8. Study makes case for wider gene
testing in bowel cancer
"So far, there are 10 gene faults
that we know are linked to
inherited bowel cancer. People
with these gene faults have a
much higher risk of developing
the disease and so are screened
from a younger age. This could
potentially help doctors decide
how best to monitor people for
early signs of bowel cancer and
guide their treatment."

9. Study makes case for wider gene
testing in bowel cancer
I think That Such discoveries Promote new
ways to Understand the cancer. This is so
important on Because in the future this
investigation could be the light for the
people who have this disease and maybe
they find the cure or one way to improve
the quality of life of this people

10. Seven genes for X-linked
intellectual disability: New
mutations on the X
chromosome
Autism is a spectrum of disorders
characterized by severe developmental
deficit, permanent and profound. Affecting
socialization, communication, imagination,
planning and emotional reciprocity, and is
evidenced by repetitive or unusual
behaviors.

11. Seven genes for X-linked intellectual
disability: New mutations on the X
chromosome
X-linked intellectual disability is caused by defective genes on
the X chromosome. As males only have one X chromosome
and the disease is passed on in a recessive manner, the
disorder mainly occurs in boys. Women are affected only if
both their X chromosomes carry the defective genes. Women
with one healthy and one mutated X chromosome are usually
healthy but have a 50% chance of passing the mutated X
chromosome on to their offspring.

12. Seven genes for X-linked intellectual
disability: New mutations on the X
chromosome
The researchers have discovered
changes in a number of genes
that were already known to be
related to the disorder. In
addition, they discovered that X-
linked intellectual disability can
also be caused by mutations in
seven other genes that, until
now, were not associated with
the disorder.

13. Seven genes for X-linked intellectual
disability: New mutations on the X
chromosome
high-throughput sequencing
This technology allows to sequence a
large number of DNA segments
simultaneously and to more easily
identify genetic defects. Using this
method, the scientists investigated all
DNA regions of the X chromosome
containing protein-relevant information

14. Seven genes for X-linked intellectual
disability: New mutations on the X
chromosome
The investigations in relation to
the autism would offer a clinical
boarding of major efficiency in
relation to the disease, allowing
to announce in a biological way
the mainsprings of the autism and
his possible clinical boarding

15. Early detection of cervical, stomach
and colon cancer through regular
assessments asymptomatic
population, raises awareness in the
general population towards
prevention, which can be used to
detect and treat cancer at early
stages.

16. Early detection of cancer greatly
increases the chances that
treatment be effective . The
principal components of early
cancer detection son two:
-PROMOTE Education Early
diagnosis
- screening

17. It´s important to investigate the region
in which one finds the mutation that
allows the development of the autism,
since if this one thinks in a protein that it
is important for the development of the
brain, the result is probably a more
serious progression of the disease

18. The comprehension and the study of the
genes involved in the autism would
contribute to an early boarding on the
disease, allowing the understanding of the
proteins involved in the codification of the
genes (in the autism) and his relation with
diseases as the epilepsy and the
schizophrenia

19. REFERENCES
-Science Daily. (2015).Seven genes for X-linked
intellectual disability: New mutations on the X
chromosome.
http://www.sciencedaily.com/releases/2015/02/15021
3104713.htm
[Consult: February 13, 2015 ]
-Science Daily. (2015). Study makes case for wider gene
testing in bowel
.http://www.sciencedaily.com/releases/2015/01/15010
5182452.htm [Consult: February 14, 2014]