Lecture 10 - 3/9/10 Gene$c
Disorders
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Unformatted text preview: 3/9/10 Gene$c
Disorders
 Sickle
Cell
Disease 
 Common
symptoms:
 •  Anemia
 •  A/acks
of
abdominal
pain
 •  Bone
pain
 •  Jaundice
 •  Delayed
growth
and
puberty
 •  Fa?gue/Fever
 •  Rapid
heart
rate
 •  Ulcers
on
the
lower
legs
(in
adolescents
and
adults)
 •  Strokes
 Epidemiology 
 •  Sickle
cell
anemia
is
 inherited
 •  More
common
in
people
of
 African
and
Mediterranean
 descent.

 –  also
seen
in
people
from
 South
and
Central
America,
 the
Caribbean,
and
the
 Middle
East.
 •  About
1
in
12
African
 Americans
has
sickle
cell
 trait.
 Treatment 
 •  supplements
of
folic
acid
(essen?al
for
producing
 red
blood
cells)
because
red
blood
cells
are
turned
 over
so
quickly.
 •  Pain
medica?on
 •  Blood
transfusions
 •  Bone
marrow

 transplants
 •  Extra
fluids/oxygen
 Cys$c
Fibrosis 
 •  Chromosomal
Disorder:
 autosomal
recessive
 •  Faulty
gene
that
makes

 transporter
protein
for
 Cl‐
 •  Thick
mucus
in
body’s
 “tubes”
 1 3/9/10 Treatment 
 •  •  •  •  •  •  •  http://www.nhlbi.nih.gov/health/dci/images/cysticfibrosis01.jpg No
Cure
 Breathing
therapy
 Percussion
treatments
 Humidifiers
 An?bio?cs
to
prevent
infec?ons
 Pancrea?c
enzymes
and
vitamins
 Lung
transplant
(no
disease)
 Epidemiology 
 •  8
million
carriers
 •  30,000
living
with
the
disease
 •  1,000‐
2,500
babies
born
with
CF
every
year.
 Biotechnology
and
DNA
 DNA
looks
the
same
no
ma/er
what
organism
 
‐
consistent
characteris?cs
 DNA
needs
to
be
isolated
to
iden?fy
the
sequence
of
the
bases
 ‐ul?mately,
this
knowledge
give
us
the
basis
for
understanding
 genes
and
elements
that
control
it
 DNA
Analysis
 To
read
the
“language”
of
gene?cs,
we
must
iden?fy
the
 sequence
of
bases
encoded
in
DNA
 The
techniques
used
to
isolate
DNA
and
iden?fy
the
base
 sequence
include

 –  nucleic
acid
hybridiza?on
 –  Restric$on
enzymes
 –  gel
electrophoresis
 –  PCR
 –  RFLP
analysis
 Restric$on
Enzymes
 Molecular
scissors
 Also
called
Endo
or
Exo
nucleases
 2 3/9/10 Restric$on
Enzymes
 ‐Recognize
palindromes
(4‐8bp)
 ‐originally
an
“immune
defense”
 for
bacteria
 ‐Cut
within
palindrome
leaving
 “ends”
that
can
be
ligated
or
 linked
with
separate
DNA
 crea$ng
spliced
or
 recombinant
DNA
 Cutting and Splicing DNA from Two Organisms You
must
be
connected
to
the
internet
to
play
this
anima?on.
 DNA
Fingerprin?ng 
 •  Restric?on
Enzymes
can
be
used
to
visualize
 specific
pa/erns
of
DNA
 •  Crime
scenes,
Disease
 •  DNA
is
cut
specifically
by
restric?on
enzymes
 •  Pa/ern
is
visualized
using
gel
electrophoresis
 –  Some?mes
need
addi?onal
steps
if
there
is
a
lot
of 
 DNA
 3 3/9/10 Gene$c
Engineering
 As
gene?c
engineers
work
on
cloned
and
transgenic
animals,
 health
researchers
are
also
considering
a
less
dras?c
step— gene
therapy
for
humans
 –  in
transgenic
animals,
the
en?re
animal
gets
a
new
gene,
 which
is
first
inserted
into
the
fer?lized
egg

 –  in
gene
therapy,
genes
are
inserted
into
specific
cells
to
 correct
defects
or
treat
disease
 •  defec?ve
or
inac?ve
genes
are
supplemented
with
 ac?ve,
func?onal
copies
of
those
genes
in
the
adult
 human
 •  h/p://www.youtube.com/watch?v=rrT5BT_7HdI
 One
of
the
most
interes?ng
projects
in
modern
gene?cs
was
the
 sequencing
of
the
en?re
human
genome
 A
genome
is
the
complete
set
of
genes
(and
alleles)
in
a
certain
 organism
 The
Human
Genome
Project,
begun
in
1990
and
essen?ally
finished
in
 2003,
was
a
massive
research
undertaking
 –  this
project
required
numerous
new
technologies,
as
the
speed
of
 sequencing
increased
by
several
orders
of
magnitude
during
the
 process
 –  ajer
a
flurry
of
inven?on,
fast,
simple
DNA
technologies
were
 introduced
and
used
to
expedite
the
mapping
of
the
human
 genome
 –  by
2002,
DNA
sequencing
and
transgenic
bacteria
produc?on
 were
commonplace
enough
to
be
available
in
many
American
high
 school
biology
labs
 The
Human
Genome
Project
 4 3/9/10 The
Human
Genome
Project
 The
goals
of
the
Human
Genome
Project
include
 –  iden?fying
all
the
genes
in
human
DNA
 –  determining
the
sequences
of
the
more
than
3
billion
 nitrogenous
base
pairs
in
human
DNA
 –  storing
this
informa?on
in
databases
 –  improving
tools
for
data
analysis
 –  transferring
related
technologies
to
the
private
sector
 –  addressing
the
ethical,
legal,
and
social
issues
that
would
 arise
from
this
knowledge
 In
comple?ng
the
map
of
the
human
genome,
scien?sts
were
able
to
 locate
the
precise
chromosome,
and
even
the
loca?on
on
that
 chromosome,
of
the
genes
responsible
for
many
congenital
diseases
 Duchenne’s
muscular
dystrophy,
Marfan’s
syndrome
and
Alzheimer’s
 disease
are
among
the
many
diseases
we
now
can
iden?fy
in
the
 genome
 In
addi?on,
we
can
now
compare
the
human
genome
to
that
of
other
 organisms,
giving
us
a
be/er
understanding
of
evolu?onary
 rela?onships
 –  scien?sts
can
trace
the
history
of
par?cular
genes
through
the
 animal
or
plant
kingdoms,
hypothesizing
about
the
meaning
of
 conserved
or
radically
altered
genes
 The
Human
Genome
Project
 5 ...
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