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Genetic analyses of Chinese patients with digenic oculocutaneous albinism.
[oculocutaneous albinism]
Oculocutaneous
albinism
(
OCA
)
is
a
heterogeneous
and
autosomal
recessive
disorder
in
all
populations
worldwide
.
The
mutational
spectra
of
OCA
are
population-
specific
.
Some
OCA
patients
carry
mutations
from
different
OCA
genes
.
In
this
study
,
we
investigated
the
frequency
of
digenic
mutations
in
Chinese
OCA
patients
.
G
enomic
DNAs
were
extracted
from
the
blood
samples
of
184
clinically
diagnosed
OCA
patients
and
120
unaffected
subjects
.
The
amplified
DNA
segments
of
the
exons
and
exon-intron
boundaries
were
screened
for
mutations
of
TYR
,
OCA
2
,
TYRP
1
,
SLC
45
A
2
,
and
HPS
1
by
direct
sequencing
.
To
exclude
the
previously
unidentified
alleles
from
polymorphisms
,
samples
from
120
unaffected
controls
were
sequenced
for
the
same
regions
of
variations
.
In
all
184
patients
,
134
had
two
pathologic
mutations
on
one
locus
.
Eleven
cases
had
no
apparent
pathologic
mutations
in
any
of
the
genes
studied
.
Among
the
remaining
39
patients
who
had
only
one
pathologic
mutation
,
five
patients
(
2
.
7
%
in
total
)
were
found
to
carry
the
mutational
alleles
on
a
second
locus
in
TYR
,
OCA
2
or
SLC
45
A
2
.
Of
the
five
digenic
OCA
patients
,
four
patients
were
clinically
diagnosed
as
OCA
2
and
one
patient
as
OCA
1
.
A
previous
unidentified
allele
p
.
G
188
D
in
SLC
45
A
2
was
identified
,
which
was
not
present
in
the
120
unaffected
controls
.
The
identification
of
the
digenic
OCA
patients
suggests
the
synergistic
roles
among
TYR
,
OCA
2
and
SLC
45
A
2
during
melanin
biosynthesis
,
which
may
cause
OCA
under
digenic
mutations
.
This
information
will
be
useful
for
gene
diagnosis
and
genetic
counseling
of
OCA
in
China
.
Diseases
Validation
Diseases presenting
"mutations of tyr"
symptom
oculocutaneous albinism
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