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Mutational analysis of CYP21A2 gene and CYP21A1P pseudogene: long-range PCR on genomic DNA.
[congenital adrenal hyperplasia]
CYP
21
A
2
,
the
gene
that
codes
for
P
450
c
21
(
Steroid
21
-
hydroxylase
)
,
has
a
duplicated
pseudogene
called
CYP
21
A
1
P
.
The
gene
and
the
pseudogene
share
98
%
and
96
%
sequence
homology
in
exons
and
in
noncoding
sequences
,
respectively
,
and
are
located
30
kb
apart
within
the
HLA
class
III
human
histocompatibility
complex
locus
on
chromosome
6
p
21
.
3
.
CYP
21
A
1
P
is
inactive
due
to
the
presence
of
11
deteriorated
mutations
in
its
coding
region
.
These
mutations
can
be
transferred
to
the
functional
CYP
21
A
2
through
intergenic
recombination
during
meiosis
or
mitosis
and
lead
to
the
congenital
adrenal
hyperplasia
(
CAH
)
resulting
from
21
-
hydroxylase
deficiency
.
Conversely
,
portions
of
CYP
21
A
2
sequence
can
be
transferred
to
CYP
21
A
1
P
,
modifying
the
haplotype
.
Here
,
we
describe
a
well-established
protocol
that
can
be
used
to
unambiguously
study
the
mutational
profile
of
CYP
21
A
2
gene
and
CYP
21
A
1
P
pseudogene
.
The
protocol
is
based
on
long
-range
PCR
amplification
with
allele-
specific
primers
,
followed
by
DNA
sequencing
of
smaller
fragments
.
Diseases
Validation
Diseases presenting
"deteriorated mutations in its coding region"
symptom
congenital adrenal hyperplasia
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