Transcript Effects of DNA Mutations in Sex Cells… Genetic Disease or Birth

Effects of DNA Mutations
in Sex Cells…
Genetic Disease or
Birth Defects
EFFECTS IN SEX CELLS
A DNA mutation that occurs in sex cells can be passed down to children
through egg and sperm cells. It can lead to birth defects or genetic disorders.
GENETIC DISORDERS
Sickle Cell Anemia
BIRTH DEFECTS
Aperts
Treacher-Collins
Progeria
FOP
Sickle Cell Anemia
Cause
Effects
Sickle
cell anemia
caused
The
changed
aminoisacid
causes the hemoglobin to change shape.
by
aa mutation
a gene
As
result,
theinnormally
red blood cell is distorted into
Now
complete
the rounded
transcription/translation
chromosome
11. pointed ends). The deformed cell is
alocated
sickle on
shape
(curved with
activity in
the
workbook
to discover the name
The code causes
onerupturing
amino easily and clogging the vessels.
abnormally
fragile,
ofthe
the
acid
thatat is
in the
sickle
acid
to red
beamino
replaced
with
As
cells break
down
an different
increased rate,
body cell
another
as the
proteinThe anemic person becomes weak, dizzy,
experiences
anemia.
anemia
hemoglobin
made.
and
short of is
breath
during physical exertion. Also, as capillaries
all over the body become blocked by clumped sickle cells, body
organs are damaged, leading to pain and often premature death.
Aperts Syndrome
Effects
Cause
Causes
Caused premature
by a mutation
closure
in the
of the
skull
gene called
resulting
growth
in a peaked
factor head
and
receptor
unusual
2. Itfacial
may appearance.
be inherited
There
as a dominant
may be webbing
gene OR between
it may
fingers
occur asand
a spontaneous
toes. Bones in
hands
mutation
and(which
feet become
meansfused
it’s not
resulting
linked to in
heredity.
less flexibility and
function.
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Treacher-Collins Syndrome
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Cause
Effects
Results
This
syndrome
in abnormal
is caused
ear
by a defective
structure,
smallgene
jaw with a
calledmouth
large
treacle.
andIt acan
defect
be in
inherited
the
lower as
eyelid.
a dominant
Scalp hair
trait, however,
extends
onto cheeks.
50% are
spontaneous
People
with this
mutations.
syndrome
do have normal intelligence
Progeria
http://www.laze.net/progeria/reunion2000.shtml
Cause
Exact cause unknown
Effects
Progeria causes growth
failure. Little children
appear to be old people.
They are bald and have
early artherosclerosis. The
average lifespan is in the
early teens
Fibrodysplasia Ossificans
Progressiva (FOP)
Cause
Effects
Childrenmutation
Genetic
appear normal
in the gene
at
that turns
birth.
Bone
onforms
after birth
in muscles,
to form
extra bone.
tendons
andCaused
ligaments.
by a
mutation.
Extra
boneItprogressively
is not inherited
The genemovement.
restricts
is on chromosome 4.
Individuals start growing
bone all over the body
between ages of 10-20. This
bone replaces the muscles.
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