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A pyrosequencing-based assay for the rapid detection of the 22q11.2 deletion in DNA from buccal and dried blood spot samples.
[22q11.2 deletion syndrome]
The
22
q
11
.
2
deletion
syndrome
is
one
of
the
most
common
deletion
syndromes
in
newborns
.
Some
affected
newborns
may
be
diagnosed
shortly
after
birth
because
of
the
presence
of
heart
defects
,
palatal
defects
,
or
severe
immune
deficiencies
.
However
,
diagnosis
is
often
delayed
in
patients
presenting
with
other
associated
conditions
that
would
benefit
from
early
recognition
and
treatment
,
such
as
speech
delays
,
learning
difficulties
,
and
schizophrenia
.
Fluorescence
in
situ
hybridization
(
FISH
)
is
the
gold
standard
for
deletion
detection
,
but
it
is
costly
and
time
consuming
and
requires
a
whole
blood
specimen
.
Our
goal
was
to
develop
a
suitable
assay
for
population-based
screening
of
easily
collectible
specimens
,
such
as
buccal
swabs
and
dried
blood
spots
(
DBS
)
.
We
designed
a
pyrosequencing
assay
and
validated
it
using
DNA
from
FISH-confirmed
22
q
11
deletion
syndrome
patients
and
normal
controls
.
We
tested
DBS
from
nine
patients
and
paired
buccal
cell
and
venous
blood
specimens
from
20
patients
.
Results
were
100
%
concordant
with
FISH
assay
results
.
DNA
samples
from
normal
controls
(
n
=
180
cell
lines
,
n
=
15
DBS
,
and
n
=
88
buccal
specimens
)
were
negative
for
the
deletion
.
Limiting
dilution
experiments
demonstrated
that
accurate
results
could
be
obtained
from
as
little
as
1
ng
of
DNA
.
This
method
represents
a
reliable
and
low
-cost
alternative
for
detection
of
the
common
22
q
11
.
2
microdeletions
and
can
be
adapted
to
high
-throughput
population
screening
.
Diseases
Validation
Diseases presenting
"paired buccal cell and venous blood specimens"
symptom
22q11.2 deletion syndrome
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