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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
"first time"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
gm1 gangliosidosis
harlequin ichthyosis
heparin-induced thrombocytopenia
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
trochlear dysplasia
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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