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Our Project
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[Mutation analysis of phenylalanine hydroxylase gene in patients w ith phenylketonuria in Henan province].
[classical phenylketonuria]
To
study
the
characteristics
of
the
phenylalanine
hydroxylase
gene
(
PAH
)
mutations
in
patients
with
phenylketonuria
(
PKU
)
in
Henan
province
,
in
order
to
provide
basic
information
for
genetic
counseling
and
prenatal
diagnosis
.
Mutations
of
the
PAH
gene
were
detected
in
exons
1
-
13
with
flanking
introns
of
PAH
gene
by
PCR
and
DNA
sequencing
in
47
families
with
PKU
.
A
total
of
25
different
mutations
were
detected
in
83
out
of
94
PAH
alleles
(
88
.
3
%
)
.
Among
them
,
E
79
fX
13
,
H
271
R
and
D
415
Y
have
not
been
reported
previously
.
It
was
the
first
time
that
IVS
10
-
14
C
to
G
mutation
was
reported
in
Chinese
PKU
population
.
The
mutations
p
.
R
243
Q
,
EX
6
-
96
A
to
G
,
p
.
Y
356
X
,
IVS
401
G
to
A
,
p
.
R
111
X
,
p
.
V
399
V
and
p
.
R
413
P
,
were
the
prevalent
mutations
with
relative
frequencies
of
20
.
5
%
,
12
.
0
%
,
9
.
6
%
,
9
.
6
%
,
8
.
4
%
,
8
.
4
%
and
7
.
2
%
respectively
.
The
mutations
of
the
PAH
gene
in
patients
with
classical
phenylketonuria
in
Henan
province
were
similar
to
that
in
other
areas
of
China
.
Prenatal
gene
diagnosis
for
PKU
by
PAH
gene
sequencing
is
efficient
for
most
PKU
families
.
Diseases
Validation
Diseases presenting
"mutations of the pah gene in patients"
symptom
classical phenylketonuria
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