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Our Project
Our Team
[Prenatal genetic diagnosis of oculocutaneous albinism type II through mutation detection combined with SNPs linkage analysis].
[oculocutaneous albinism]
To
provide
prenatal
diagnosis
for
two
families
affected
with
oculocutaneous
albinism
(
OCA
)
,
in
both
of
which
only
1
pathogenic
allele
has
been
identified
.
To
determine
the
clinical
classification
of
OCA
through
DNA
sequencing
for
TYR
,
P
,
TYRP
1
and
SLC
45
A
2
genes
in
combination
with
phenotype
analysis
.
Prenatal
diagnosis
was
carried
out
by
direct
sequencing
and
intragenic
SNPs
family-based
linkage
analysis
.
In
the
first
family
,
only
1
heterozygous
mutation
c
.
1255
C
>
T
was
found
in
the
proband
,
which
was
inherited
from
her
mother
.
Together
with
its
clinical
phenotype
,
the
proband
was
suspected
to
have
OCA
2
Screening
of
amniotic
fluid
,
however
,
has
found
no
mutation
.
With
family-based
linkage
analysis
,
the
fetus
was
deemed
to
be
an
OCA
2
carrier
.
In
the
second
family
,
again
only
one
heterozygous
mutation
c
.
1920
_
1949
del
30
bp
and
ins
AACA
was
found
in
the
proband
,
which
was
inherited
from
her
father
.
Together
with
its
clinical
phenotype
,
the
proband
was
suspected
to
have
OCA
2
.
Screening
of
amniotic
fluid
has
revealed
a
heterozygous
mutation
c
.
1920
_
1949
del
30
bp
and
ins
AACA
.
By
family-based
linkage
analysis
,
the
fetus
was
deemed
to
be
an
OCA
2
carrier
.
Both
fetuses
had
a
normal
phenotype
at
birth
.
Prenatal
genetic
diagnosis
has
been
provided
for
the
first
time
for
two
families
affected
with
OCA
,
in
which
only
1
pathogenic
mutant
allele
was
detected
.
The
combined
mutation
detection
and
SNPs
linkage
analysis
has
turned
out
to
be
successful
.
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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