Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
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
"albinism"
symptom
aniridia
cystinuria
harlequin ichthyosis
oculocutaneous albinism
phenylketonuria
This symptom has already been validated