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[A de novo mutation of P gene causes oculocutaneous albinism type 2 with prenatal diagnosis].
[oculocutaneous albinism]
To
determine
the
genotype
of
a
family
affected
with
oculocutaneous
albinism
(
OCA
)
and
to
provide
genetic
counseling
and
prenatal
diagnosis
.
To
determine
the
genotypes
and
mutational
sites
through
PCR
and
sequencing
for
all
exons
and
exon-intron
junctions
of
4
OCA
genes
in
the
proband
and
the
P
gene
of
her
parents
.
Prenatal
genotyping
of
the
fetus
was
carried
out
using
amniocentesis
sample
.
The
patient
was
diagnosed
with
OCA
2
based
on
a
genotype
of
c
.
1327
G
>
A
/
c
.
2360
C
>
T
.
Her
father
was
heterozygous
for
c
.
2360
C
>
T
,
whilst
her
mother
has
none
of
the
two
mutations
.
c
.
1327
G
>
A
is
therefore
a
maternal
de
novo
mutation
.
Neither
of
the
mutations
was
found
in
the
fetus
.
A
maternally
inherited
de
novo
mutation
c
.
1327
G
>
A
has
been
identified
in
the
patient
.
In
order
to
detect
de
novo
mutations
,
full
sequence
analysis
is
necessary
.