Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population.
[canavan disease]
In
the
Ashkenazi
Jewish
population
,
serious
and
lethal
genetic
conditions
occur
with
relatively
high
frequency
.
A
single
test
that
encompasses
the
majority
of
population-
specific
mutations
is
not
currently
available
.
For
comprehensive
carrier
screening
and
molecular
diagnostic
purposes
,
we
developed
a
population-
specific
and
inclusive
microarray
.
The
arrayed
primer
extension
genotyping
microarray
carries
59
sequence
variant
detection
sites
,
of
which
53
are
detectable
bi
-directionally
.
These
sites
represent
the
most
common
variants
in
Tay-
Sachs
disease
,
Bloom
syndrome
,
Canavan
disease
,
Niemann-
Pick
A
,
familial
dysautonomia
,
torsion
dystonia
,
mucolipidosis
type
IV
,
Fanconi
anemia
,
Gaucher
disease
,
factor
XI
deficiency
,
glycogen
storage
disease
type
1
a
,
maple
syrup
urine
disease
,
nonsyndromic
sensorineural
hearing
loss
,
familial
Mediterranean
fever
,
and
glycogen
storage
disease
type
III
.
Several
mutations
in
the
selected
disorders
that
are
not
prevalent
per
se
in
the
Ashkenazi
Jewish
populations
,
as
well
pseudodeficiency
alleles
,
are
also
included
in
the
array
.
The
initial
technical
evaluation
of
this
microarray
demonstrates
that
it
is
comprehensive
,
robust
,
sensitive
,
specific
,
and
easily
modifiable
.
This
cost-effective
array
is
based
on
a
diversely
applied
platform
technology
and
is
suitable
for
both
carrier
screening
and
disease
detection
in
Ashkenazi
and
Sephardic
Jewish
populations
.
Diseases
Validation
Diseases presenting
"is suitable for both carrier screening and disease detection in ashkenazi and sephardic jewish populations"
symptom
canavan disease
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom