Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[Gene distribution characteristics of deletional α-thalassemia in Guangxi region].
[alpha-thalassemia]
To
analyze
the
detection
rate
and
gene
distribution
characteristic
of
deletional
α-thalassemia
in
Guangxi
area
,
and
to
provide
theoretic
basis
for
thalassemia
gene
diagnosis
and
genetic
counseling
.
The
regular
gene
diagnosis
of
3
types
of
α-thal
(
-
-
(
SEA
)
,
-
α
(
3
.
7
)
,
-
α
(
4
.
2
)
)
was
performed
by
gap-
PCR
,
multiple
ligation
probe
and
gene
sequencing
for
globin
α
or
β
were
used
to
detect
those
samples
whose
genotype
and
phenotype
were
not
consistent
.
And
the
distribution
characteristic
of
α-thalassemia
gene
in
Guangxi
area
was
then
analyzed
.
Out
of
51
191
suspected
thalassemia
patients
,
there
were
19
853
cases
of
deletional
a-thalassemia
,
accounted
for
39
.
9
%
in
total
positive
rate
,
including
19
780
cases
of
regular
types
(
-
-
(
SEA
)
,
-
α
(
3
.
7
)
,
-
α
(
4
.
2
)
)
,
61
cases
of
Thailand
-
type
deletion
,
9
cases
of
triplet
type
(
Hong
Kong
)
(
αααHK
)
,
1
case
of
21
.
9
kb
deletion
type
and
2
cases
of
809
bp
deletion
type
.
Types
of
deletional
a-thalassemia
were
complex
and
accounted
for
large
proportion
in
Guangxi
area
.
Special
gene
diagnoses
were
needed
for
those
couples
whose
genotype
and
phenotype
were
not
consistent
,
in
order
to
provide
reliable
basis
for
genetic
counseling
and
prenatal
diagnosis
.
Diseases
Validation
Diseases presenting
"prenatal diagnosis"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cystinuria
dentinogenesis imperfecta
epidermolysis bullosa simplex
harlequin ichthyosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kindler syndrome
krabbe disease
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
phenylketonuria
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom