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Genetic Disease Notes

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by

Miss Schwinge

on 13 January 2014

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Transcript of Genetic Disease Notes

Genetic Diseases
There are
types of
diseases
that
lay hidden

in the
DNA
of our
own
cells
known as
human genetic disorders
Genetic diseases
can be
passed down or inherited from parents to children
, or can be caused by
abnormalities in chromosomes
or
mess ups during Meiosis
The
genes
for
genetic disease
get
shuffled around
so that, because of
crossing over
, you
may or may not
get a
genetic disease
that your
parent has.
Why is this???
The
gene
that
codes for a specific
genetic disease

may or may not, after
crossing over
and then
random
assortment
, have been
found within
the gamete that created you
<3
Some
genetic diseases
are only
inherited
if the new baby is a
certain sex
. These are called
sex linked diseases
. We will discuss them in more detail later in the unit.
Another way that
genetic disease
can be
made
within a person is
nondisjunction
Sometimes the
pairs of homologous chromosomes don't separate during Meiosis I
. This process is called
nondisjunction
. When this happens,
both members of the chromosome pair move to the same pole of the cell during Anaphase I.
This means there is an
extra chromosome in half of the gametes
and
one less chromosome in the other half of the gametes
once a cell has
finished Meiosis.
One type of
genetic disease
is
Sickle Cell Anemia,
a
serious disease that is often
found in individuals
who trace
their
ancestry
to either the
northern Mediterranean or to
Africa
. This disease is
inherited from
parents.
Another type of
genetic disease
is
Down Syndrome (or trisomy 21),
which causes
physical abnormalities
and
mental retardation
. This type of genetic disease is caused by
non-disjunction
of the
21st homologous chromosome pair.
Colorblindness
is another type of
genetic disease
that you may of heard of. This disease is
inherited from parents
and is a
sex-linked disorder
. This disease causes people
to not be able to see certain colors.
While
some genetic diseases
are
detected at birth
, others may
not show up
until
late in adult life
Doctors can now take
DNA samples
from
pregnant mothers
in a process called an
amniocentesis.
From the DNA, a doctor can have a
picture of all the chromosomes in a cell
to see if the
child
will have a
genetic disease
. These pictures are called
karyotypes.
Karyotypes
can
show changes
in the
chromosomes
such as
deletion of a part
of a chromosome or loss of a chromosome, or an extra chromosome due to
non-disjunction.
Some other genetic diseases
Klinefelter's Syndrome
Turner Syndrome
Super Female (Triple X Syndrome)
Edward's Syndrome
Fun Fact:
Most African Americans can trace their ancestry to west central Africa. Malaria, a serious parasite disease that infects red blood cells, is common in this region of Africa. People who are heterozygous for the sickle cell allele are generally healthy and have the benefit of being resistant to malaria
Klinefelter's Syndrome
is a disorder that
affects only males.
Males with

this disorder have an
extra X chromosome (XXY)
, giving them a total of
47

chromosomes
instead of the normal
46
At
puberty
, men with this syndrome often develop
more breast tissue
than normal, have a
less muscular body
,
grow very little facial or body hair
, may have
learning disabilities
, and are
sterile
.
Edward's Syndrome
is a
rare genetic disorder
where a
portion
of a person's
chromosome 18

is

duplicated
.
Turner Syndrome
is a genetic disease

that
only affects women
, and is
caused by a missing or incomplete X chromosome.
Turner syndrome
affects
growth and ovary development
. Girls with this disorder are
shorter than normal, have delayed puberty, and may have a short webbed neck.
Super Female Syndrome
(also called
Triple X
)

is a genetic disease that
only affects women
and is
caused by the presence of an extra ‘X’ chromosome
Women with Triple X Syndrome are normally
taller than normal, have an increased width between eyes, have proportionately smaller head size,
and may have
learning disabilities and poor motor skills.
The
majority
of people with the syndrome
die during the fetal stage
;
infants who survive experience serious defects
and commonly
live for short periods
of time.
Full transcript