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A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene.
[oculocutaneous albinism]
Oculocutaneous
albinism
(
OCA
)
is
a
congenital
genetic
disorder
characterized
by
defects
in
melanin
production
.
OCA
type
1
(
OCA
1
)
is
the
most
serious
and
common
type
of
OCA
.
This
study
characterized
mutations
associated
with
OCA
1
in
a
series
of
Chinese
patients
.
We
recruited
41
unrelated
patients
with
OCA
and
100
healthy
subjects
from
the
Chinese
Han
population
.
Genomic
DNA
was
extracted
from
their
blood
samples
.
Mutational
analysis
of
tyrosinase
(
TYR
)
genes
was
conducted
using
polymerase
chain
reaction
(
PCR
)
and
direct
sequencing
,
specifically
to
test
the
100
control
subjects
and
exclude
the
possibility
of
polymorphism
.
Mutational
analysis
and
bioinformatics
study
were
performed
in
TYR
mutations
.
A
mong
the
24
(
58
.
5
%
)
patients
with
OCA
1
,
21
different
TYR
mutations
were
identified
,
including
three
previously
unidentified
alleles
(
PUAs
)
:
one
frameshift
mutation
(
c
.
216
delA
)
and
two
missense
mutations
(
A
241
T
and
N
364
K
)
.
The
proband
mutation
A
241
T
carries
three
possible
mutations
in
complex
OCA
.
T
he
findings
of
this
study
expand
current
knowledge
and
data
of
mutations
associated
with
OCA
1
in
China
and
allow
us
to
estimate
or
explore
the
mutation
spectrum
and
relative
frequencies
of
the
TYR
gene
in
the
Chinese
population
.
Diseases
Validation
Diseases presenting
"common type"
symptom
alexander disease
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dentinogenesis imperfecta
erythropoietic protoporphyria
esophageal carcinoma
hereditary cerebral hemorrhage with amyloidosis
liposarcoma
oculocutaneous albinism
oligodontia
pendred syndrome
pleomorphic liposarcoma
pyomyositis
well-differentiated liposarcoma
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