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Applying and testing the conveniently optimized enzyme mismatch cleavage method to clinical DNA diagnosis.
[werner syndrome]
Establishing
a
simple
and
effective
mutation
screening
method
is
one
of
the
most
compelling
problems
with
applying
genetic
diagnosis
to
clinical
use
.
Because
there
is
no
reliable
and
inexpensive
screening
system
,
amplifying
by
PCR
and
performing
direct
sequencing
of
every
coding
exon
is
the
gold
standard
strategy
even
today
.
However
,
this
approach
is
expensive
and
time
consuming
,
especially
when
gene
size
or
sample
number
is
large
.
Previously
,
we
developed
CEL
nuclease
mediated
heteroduplex
incision
with
polyacrylamide
gel
electrophoresis
and
silver
staining
(
CHIPS
)
as
an
ideal
simple
mutation
screening
system
constructed
with
only
conventional
apparatuses
and
commercially
available
reagents
.
In
this
study
,
we
evaluated
the
utility
of
CHIPS
technology
for
genetic
diagnosis
in
clinical
practice
by
applying
this
system
to
screening
for
the
COL
2
A
1
,
WRN
and
RPS
6
KA
3
mutations
in
newly
diagnosed
patients
with
Stickler
syndrome
(
autosomal
dominant
inheritance
)
,
Werner
syndrome
(
autosomal
recessive
inheritance
)
and
Coffin-
Lowry
syndrome
(
X-
linked
inheritance
)
,
respectively
.
In
all
three
genes
,
CHIPS
detected
all
DNA
variations
including
disease
causative
mutations
within
a
day
.
Direct
sequencing
of
all
coding
exons
of
these
genes
confirmed
100
%
sensitivity
and
specificity
.
We
demonstrate
high
sensitivity
,
high
cost
performance
and
reliability
of
this
simple
system
,
with
compatibility
to
all
inheritance
modes
.
Because
of
its
low
technology
,
CHIPS
is
ready
to
use
and
potentially
disseminate
to
any
laboratories
in
the
world
.
Diseases
Validation
Diseases presenting
"newly diagnosed patients"
symptom
erythropoietic protoporphyria
severe combined immunodeficiency
waldenström macroglobulinemia
werner syndrome
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