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[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
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Diseases presenting
"there were 19 853 cases of deletional a-thalassemia"
symptom
alpha-thalassemia
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