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A random Abstract
Our Project
Our Team
An integrated physical map of 8q22-q24: use in positional cloning and deletion analysis of Langer-Giedion syndrome.
[cohen syndrome]
We
have
developed
an
integrated
map
for
a
35
-
cM
area
of
human
chromosome
8
surrounding
the
Langer-
Giedion
syndrome
deletion
region
.
This
map
spans
from
approximately
8
q
22
to
8
q
24
and
includes
10
hybrid
cell
intervals
,
89
polymorphic
STSs
,
118
ESTs
,
and
37
known
genes
or
inferred
gene
homologies
.
The
map
locations
of
25
genes
including
osteoprotegerin
,
syndecan-
2
,
and
autotaxin
have
been
refined
from
the
general
locations
previously
reported
.
In
addition
,
the
map
has
been
used
to
indicate
the
location
of
nine
deletions
in
patients
with
Langer-
Giedion
syndrome
and
trichorhinophalangeal
syndrome
type
I
to
demonstrate
the
potential
usefulness
of
the
map
in
the
analysis
of
these
complex
syndromes
.
The
map
will
also
be
of
interest
to
anyone
trying
to
clone
positionally
disease
genes
in
this
region
,
such
as
Cohen
syndrome
(
8
q
22
-
q
23
)
,
Klip-
Feil
syndrome
(
8
q
22
.
2
)
,
hereditary
spastic
paraplegia
(
8
q
24
)
,
and
benign
adult
familial
myoclonic
epilepsy
(
8
q
23
.
3
-
q
24
.
1
)
.
Diseases
Validation
Diseases presenting
"inferred gene homologies. the map locations"
symptom
cohen syndrome
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