Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Phosphofructokinase activity in fibroblasts aneuploid for chromosome 21.
[monosomy 21]
Although
the
gene
for
the
liver
type
(
L
)
subunit
of
phosphofructokinase
(
PFK
)
is
located
on
human
chromosome
21
and
PFKL
subunits
predominate
in
fibroblasts
,
an
increase
in
PFK
activity
has
not
been
reported
in
trisomy
21
fibroblasts
.
However
,
using
well-matched
pairs
of
trisomy
21
and
diploid
fibroblast
strains
,
we
observed
an
almost
1
.
5
-
fold
increase
in
mean
PFK
activity
of
trisomic
cells
.
In
monosomy
21
fibroblasts
we
found
an
almost
0
.
5
-
fold
decrease
in
mean
PFK
activity
.
Thus
there
appears
to
be
a
gene
-dosage
effect
for
the
PFKL
gene
,
as
for
other
loci
on
chromosome
21
.
PFK
activity
in
a
cell
strain
deleted
for
the
distal
part
of
band
21
q
22
.
3
was
not
decreased
,
suggesting
with
other
data
that
PFKL
is
located
in
the
midportion
of
band
21
q
22
.
3
.