Rare Diseases Symptoms Automatic Extraction
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Heat-transfer-based detection of SNPs in the PAH gene of PKU patients.
[phenylketonuria]
Conventional
neonatal
diagnosis
of
phenylketonuria
is
based
on
the
presence
of
abnormal
levels
of
phenylalanine
in
the
blood
.
However
,
for
carrier
detection
and
prenatal
diagnosis
,
direct
detection
of
disease-correlated
mutations
is
needed
.
To
speed
up
and
simplify
mutation
screening
in
genes
,
new
technologies
are
developed
.
In
this
study
,
a
heat-transfer
method
is
evaluated
as
a
mutation
-detection
technology
in
entire
exons
of
the
phenylalanine
hydroxylase
(
PAH
)
gene
.
This
method
is
based
on
the
change
in
heat-transfer
resistance
(
R
(
th
)
)
upon
thermal
denaturation
of
dsDNA
(
double
-stranded
DNA
)
on
nanocrystalline
diamond
.
First
,
ssDNA
(
single
-stranded
DNA
)
fragments
that
span
the
size
range
of
the
PAH
exons
were
successfully
immobilized
on
nanocrystalline
diamond
.
Next
,
it
was
studied
whether
an
R
(
th
)
change
could
be
observed
during
the
thermal
denaturation
of
these
DNA
fragments
after
hybridization
to
their
complementary
counterpart
.
A
clear
R
(
th
)
shift
during
the
denaturation
of
exon
5
,
exon
9
,
and
exon
12
dsDNA
was
observed
,
corresponding
to
lengths
of
up
to
123
bp
.
Finally
,
R
(
th
)
was
shown
to
detect
prevalent
single
-nucleotide
polymorphisms
,
c
.
473
G
>
A
(
R
158
Q
)
,
c
.
932
T
>
C
(
p
.
L
311
P
)
,
and
c
.
1222
C
>
T
(
R
408
W
)
,
correlated
with
phenylketonuria
,
displaying
an
effect
related
to
the
different
melting
temperatures
of
homoduplexes
and
heteroduplexes
.
Diseases
Validation
Diseases presenting
"abnormal levels"
symptom
alexander disease
fabry disease
krabbe disease
neonatal adrenoleukodystrophy
phenylketonuria
sneddon syndrome
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