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
"we developed a population-specific and inclusive microarray"
symptom
canavan disease
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom