Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
.