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A simple and rapid polymerase chain reaction-based method for detecting a prevalent mutation (R413P) in Japanese phenylketonuria patients.
[classical phenylketonuria]
A
convenient
molecular
method
for
the
detection
of
R
413
P
(
1238
G--
>
C
)
mutation
in
exon
12
of
the
phenylalanine
hydroxylase
gene
,
one
of
the
prevalent
mutations
among
Japanese
patients
with
classical
phenylketonuria
(
PKU
)
is
described
.
The
mutation
was
previously
detected
by
polymerase
chain
reaction
(
PCR
)
-
direct
sequencing
or
allele
specific
oligonucleotide
hybridization
.
However
,
these
methods
were
cumbersome
and
only
a
few
laboratories
could
provide
such
a
diagnostic
service
.
An
improved
version
of
the
method
has
been
developed
here
,
involving
30
cycles
of
PCR
following
restriction
enzyme
digestion
.
In
the
upstream
primer
encompassing
G-
1207
to
C-
1237
,
two
substitutions
are
artificially
introduced
,
so
that
a
Bam-
HI
site
involving
C-
1238
is
introduced
in
the
copies
of
the
mutant
allele
.
With
the
use
of
this
method
,
R
413
P
-
homozygote
and
-
heterozygote
can
be
readily
and
unequivocally
distinguished
from
normal
using
genomic
DNA
extracted
from
peripheral
blood
leukocytes
.
Among
10
Japanese
PKU
patients
investigated
,
three
were
homozygous
and
three
were
heterozygous
for
the
R
413
P
allele
,
whereas
four
did
not
carry
this
mutant
allele
,
indicating
that
the
prevalence
of
the
mutant
allele
is
45
%
.
The
result
suggests
that
it
is
technically
feasible
to
develop
a
program
for
carrier
detection
of
the
mutation
in
the
Japanese
population
.
Diseases
Validation
Diseases presenting
"blood leukocytes"
symptom
classical phenylketonuria
cowden syndrome
erythropoietic protoporphyria
kallmann syndrome
von hippel-lindau disease
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