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A random Abstract
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Our Team
[Establishment of an allele-specific PCR method for direct screening of CYP21A2 gene mutation].
[congenital adrenal hyperplasia]
To
establish
an
allele-
specific
PCR
method
for
detect
screening
of
CYP
21
A
2
gene
mutation
.
Allele-
specific
PCR
primers
and
analogy
primers
were
designed
based
on
the
sequence
alignment
of
CYP
21
A
2
and
CYP
21
AP
genes
.
Genomic
DNA
was
extracted
from
blood
specimens
of
4
patients
with
21
-
hydroxylase
deficiency
and
5
healthy
controls
and
respectively
amplified
with
allele-
specific
PCR
primers
and
analogy
primers
and
sequenced
.
Mutations
of
CYP
21
A
2
including
IVS
2
-
13
A
/
C
>
G
,
Arg
356
T
rp
and
Arg
149
Pro
were
found
with
the
established
method
in
all
of
the
4
patients
but
not
in
the
healthy
controls
.
When
detected
with
the
analogy
primers
set
,
IVS
2
-
13
A
/
C
>
G
and
Arg
356
Trp
were
observed
in
both
patients
and
healthy
controls
.
The
allele-
specific
PCR-based
method
is
a
simple
,
effective
and
reliable
method
for
the
detection
of
CYP
21
A
2
gene
mutation
.
Diseases
Validation
Diseases presenting
"blood specimens"
symptom
22q11.2 deletion syndrome
alpha-thalassemia
congenital adrenal hyperplasia
congenital toxoplasmosis
lymphangioleiomyomatosis
phenylketonuria
scrub typhus
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