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[Porcine VHL gene cloning and construction of VHL knockdown cloned embryos].
[von hippel-lindau disease]
Von
Hippel-
Lindau
(
VHL
)
disease
is
an
autosomal
dominant
disorder
and
its
clinical
manifestation
including
haemangioblastomas
of
the
central
nervous
system
,
renal
cell
carcinoma
,
haeochromocytomas
,
and
pancreatic
cyst
.
The
deletion
,
mutation
and
promoter
methylation
of
VHL
gene
can
cause
VHL
disease
.
Swine
is
considered
as
an
ideal
model
for
human
disease
because
of
its
physiological
and
anatomical
similarity
to
human
.
We
cloned
pig
VHL
gene
that
is
2
725
bp
in
length
.
VHL
highly
expressed
in
adrenal
gland
,
liver
,
pancreas
,
heart
and
testis
.
We
designed
5
shRNAs
and
screened
the
most
effective
interference
RNA
fragment
with
a
knockdown
efficiency
of
72
%
.
Porcine
embryonic
fibroblasts
stably
transfected
with
pGenesil-shRNA
vector
were
used
as
donor
cells
for
nuclear
transfer
and
there
was
no
significant
difference
of
embryo
development
compared
with
the
control
group
.
Moreover
,
VHL
was
efficiently
knocked-down
with
efficiency
of
71
%
in
porcine
cloned
blastocyst
,
these
results
lay
a
solid
foundation
for
constructing
the
VHL
knock-down
model
of
pig
.
Diseases
Validation
Diseases presenting
"central nervous system"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
aniridia
aromatase deficiency
canavan disease
child syndrome
classical phenylketonuria
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cystinuria
dracunculiasis
erdheim-chester disease
fabry disease
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
legionellosis
liposarcoma
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
phenylketonuria
proteus syndrome
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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