Rare Diseases Symptoms Automatic Extraction
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Screening aberrant methylation profile in esophageal squamous cell carcinoma for Kazakhs in Xinjiang area of China.
[esophageal squamous cell carcinoma]
To
screen
the
aberrant
methylation
genes
in
esophageal
squamous
cell
carcinoma
(
ESCC
)
for
Kazakh
nationality
in
Xinjiang
,
and
the
aberrant
DNA
methylation
genes
pattern
provides
a
clue
for
deeply
study
on
ESCC
mechanism
.
Illumina
Human
Methylation
450
Â
K
chip
was
used
to
screen
the
genome-
wide
methylation
on
six
cancer
tissues
and
six
adjacent
normal
tissues
of
ESCC
in
Kazakh
people
.
Meanwhile
,
mRNA
library
was
constructed
by
scanning
the
RNA
expression
on
two
cancer
tissues
and
two
adjacent
normal
tissues
by
Hiseq
2000
.
After
association
study
between
the
methylation
profile
and
expression
profile
,
aberrant
DNA
methylated
genes
were
screened
out
and
were
uploaded
to
the
GoMiner
and
the
KEGG
,
completing
the
bioinformatic
analysis
.
There
were
227
hypermethylation
genes
and
6
hypomethylated
genes
in
cancer
tissue
,
mRNA
expression
varied
from
0
.
0312
to
8
,
192
in
cancer
tissues
compared
with
0
.
0312
-
1
,
024
in
adjacent
normal
tissues
.
The
correlation
study
indicated
that
there
were
10
loci
in
10
down-regulated
genes
of
hypermethylated
in
negative
correlation
group
.
Additionally
,
there
were
11
loci
in
10
up-regulated
genes
in
negative
group
.
Using
GoMiner
to
do
GO
analysis
on
aberrant
DNA
methylation
genes
,
RAPGEFL
1
,
TP
53
AIP
1
,
KIAA
1522
,
DUOXA
2
were
identified
not
involved
in
any
biological
processes
.
ALDH
1
L
1
participated
in
folinic
acid
catabolism
and
CAPN
1
positively
regulated
the
cell
proliferation
.
And
ALDH
1
L
1
involved
in
one
carbon
metabolism
and
CAPN
1
participate
in
the
apoptosis
process
by
applying
pathway
analysis
.
The
aberrant
DNA
methylation
profiles
were
established
and
provided
a
clue
for
deeply
study
on
ESCC
of
Kazakh
nationality
.
Diseases
Validation
Diseases presenting
"cancer"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated