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Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene.
[congenital adrenal hyperplasia]
Congenital
Adrenal
Hyperplasia
(
CAH
)
due
to
21
-
hydroxylase
deficiency
,
encoded
by
CYP
21
A
2
gene
,
is
an
autosomal
recessive
disorder
.
The
CYP
21
A
2
gene
,
localized
in
a
genetic
unit
defined
RCCX
module
,
is
considered
one
of
the
most
polymorphic
of
human
genes
.
We
considered
new
evidences
about
the
presence
of
a
RCCX
trimodular
haplotype
with
a
CYP
21
A
2
-
like
gene
to
explain
the
lack
of
a
genotype-phenotype
correlation
in
individuals
of
two
different
families
.
To
verify
gene
duplication
we
used
Multiplex
Ligation
Probe-
Dependent
Amplifications
(
MLPA
)
and
to
confirm
the
presence
of
a
CYP
21
A
2
-
like
gene
downstream
TNXA
gene
we
used
previously
described
amplification
and
restriction
strategy
followed
by
the
sequencing
of
the
CYP
21
A
2
gene
downstream
TNXB
gene
.
T
he
amplification
strategy
and
restriction
analysis
of
CYP
21
A
1
P
/
CYP
21
A
2
-
TNXA
PCR
product
in
association
with
MLPA
assay
and
sequencing
of
CYP
21
A
2
gene
downstream
TNXB
were
able
to
identify
the
presence
of
the
CYP
21
A
2
-
like
gene
in
healthy
subjects
of
the
two
families
,
wherein
the
direct
sequencing
of
CYP
21
A
2
gene
showed
genotypes
correlated
to
pathological
phenotypes
.
The
strategy
suggested
is
useful
to
facilitate
molecular
testing
in
CAH
patients
,
considering
the
new
evidence
about
possible
different
haplotypes
.
Diseases
Validation
Diseases presenting
"restriction strategy followed by the sequencing of the cyp21a2 gene downstream tnxb gene"
symptom
congenital adrenal hyperplasia
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