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A random Abstract
Our Project
Our Team
[Analysis of mutations in exon 7 of phenylalanine hydroxylase gene among children with phenylketonuria in Ningxia, China].
[phenylketonuria]
To
investigate
the
type
and
frequency
of
mutations
in
exon
7
of
phenylalanine
hydroxylase
(
PAH
)
gene
among
children
with
phenylketonuria
(
PKU
)
in
Ningxia
,
China
and
to
provide
a
basis
for
the
genetic
diagnosis
and
prenatal
diagnosis
of
PKU
in
this
region
.
Direct
sequencing
of
PCR
product
was
performed
to
analyze
the
sequences
of
exon
7
and
its
flanking
introns
of
146
PAH
alleles
in
73
children
with
typical
PKU
(
39
cases
of
Hui
nationality
and
34
cases
of
Han
nationality
)
in
Ningxia
.
Six
mutations
were
detected
,
including
R
243
Q
(
14
.
4
%
)
,
R
241
C
(
6
.
8
%
)
,
IVS
7
+
2
T
→
A
(
2
.
7
%
)
,
L
255
S
(
0
.
7
%
)
,
G
247
V
(
0
.
7
%
)
,
and
G
247
R
(
0
.
7
%
)
.
The
overall
frequency
of
mutations
(
missense
mutation
and
splice
site
mutation
)
in
exon
7
was
26
.
0
%
(
38
/
146
)
.
The
detection
rate
of
R
241
C
mutation
was
significantly
higher
in
children
of
Hui
nationality
than
in
children
of
Han
nationality
(
10
%
vs
3
%
;
P
<
0
.
05
)
.
In
Ningxia
,
R
243
Q
mutation
in
exon
7
of
PAH
gene
is
most
common
in
children
with
PKU
,
followed
by
R
241
C
.
The
frequency
of
R
241
C
mutation
in
exon
7
of
PAH
gene
varies
between
children
with
PKU
of
Hui
and
Han
nationality
.
Diseases
Validation
Diseases presenting
"mutations in exon 7 of phenylalanine hydroxylase (pah) gene"
symptom
phenylketonuria
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