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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
"prenatal diagnosis"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cystinuria
dentinogenesis imperfecta
epidermolysis bullosa simplex
harlequin ichthyosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kindler syndrome
krabbe disease
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
phenylketonuria
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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