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[Identification of mutations in the phenylalanine hydroxylase gene and exon 5 novel mutation Y166X(C-->G) in Yunnan].
[classical phenylketonuria]
To
identify
the
mutations
of
the
phenylalanine
hydroxylase
gene
in
Yunnan
so
as
to
enhance
the
gene
diagnosis
of
classical
phenylketonuria
(
PKU
)
in
that
south-
western
province
of
China
.
Exons
4
,
5
,
6
,
7
,
10
,
11
and
12
of
the
phenylalanine
hydroxylase
(
PAH
)
were
analyzed
in
13
/
14
children
affected
with
classical
PKU
from
Yunnan
by
using
PCR-
single
strand
conformation
polymorphism
(
PCR-SSCP
)
,
PCR-ASO
dot
blot
hybridization
,
allele
specific
polymerase
chain
reaction
(
ASPCR
)
and
PCR-direct
sequencing
.
F
ive
missense
mutations
,
i
.
e
.
R
243
Q
.
(
5
/
26
)
,
Y
204
C
(
3
/
28
)
,
G
247
V
(
1
/
26
)
,
R
413
P
(
2
/
28
)
and
T
418
P
(
1
/
28
)
;
three
nonsense
mutations
,
i
.
e
.
Y
166
X
(
C--
>
G
)
(
2
/
26
)
,
W
326
X
(
1
/
28
)
and
Y
356
X
(
2
/
26
)
;
and
one
silent
mutation
(
V
399
V
)
(
2
/
26
)
were
identified
.
The
nonsense
mutation
Y
166
X
(
C--
>
G
)
should
be
a
novel
mutation
as
compared
with
the
PAH
Mutation
Database
.
Five
kinds
of
popular
PAH
gene
mutation
(
R
243
Q
,
Y
204
C
,
V
399
V
,
Y
356
X
and
R
413
P
)
identified
in
the
people
of
Yunnan
are
similar
to
those
in
the
northern
people
,
but
such
characteristic
is
different
from
that
in
the
southern
people
.
This
finding
will
enhance
the
efficacy
in
gene
diagnosis
of
PKU
and
will
be
of
reference
value
for
studies
of
population
and
regional
difference
in
the
pattern
of
PAH
mutation
distribution
.
Diseases
Validation
Diseases presenting
"specific polymerase chain reaction"
symptom
classical phenylketonuria
waldenström macroglobulinemia
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