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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
"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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