Rare Diseases Symptoms Automatic Extraction
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The single cell as a tool for genetic testing: credibility, precision, implication.
[canavan disease]
To
investigate
the
influence
of
amplicons
size
and
cell
type
on
allele
dropout
and
amplification
failures
in
single
-cell
based
molecular
diagnosis
.
730
single
lymphocytes
and
amniotic
cells
were
collected
from
known
heterozygotes
individuals
to
one
of
the
common
Ashkenazi
Jewish
mutations
:
1278
+
TATC
and
IVS
12
+
1
G
>
C
which
cause
Tay
Sachs
Disease
,
IVS
20
+
6
T
and
854
A
>
C
which
underlie
Familial
Dysautonomia
and
Canavan
Disease
.
DNA
was
extracted
and
analyzed
by
our
routine
methods
.
Reduced
rates
of
allele
dropout
and
amplification
failure
were
found
when
smaller
amplification
product
were
designed
and
in
amniotic
cultured
cells
compared
to
peripheral
lymphocytes
.
Cultured
lymphocytes
,
induced
to
divide
,
demonstrated
significantly
less
allele
dropout
than
non
induced
lymphocytes
suggesting
the
role
of
division
potential
on
amplification
efficiency
.
Single
cell
based
diagnosis
should
be
designed
for
each
mutation
.
Minimal
sized
amplicons
and
cell
having
division
potential
should
be
preferred
,
as
well
as
sensitive
techniques
to
detect
preferential
amplification
.
Diseases
Validation
Diseases presenting
"amniotic cells were collected from known heterozygotes individuals to one of the common ashkenazi jewish mutations"
symptom
canavan disease
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