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A random Abstract
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Refined mapping of the Cohen syndrome gene by linkage disequilibrium.
[cohen syndrome]
The
Cohen
syndrome
is
a
rare
autosomal
recessively
inherited
disorder
.
Contrary
to
many
case
reports
published
elsewhere
,
the
phenotype
is
uniform
in
Finland
including
nonprogressive
mental
and
motor
retardation
,
typical
dysmorphic
features
,
granulocytopenia
and
marked
ophthalmological
changes
.
By
linkage
analysis
in
five
Finnish
multiplex
nuclear
families
,
the
COH
1
locus
for
the
Cohen
syndrome
was
recently
assigned
to
a
10
-
cM
region
between
loci
D
8
S
270
and
D
8
S
521
on
the
long
arm
of
chromosome
8
.
Here
we
present
results
of
linkage
disequilibrium
and
haplotype
analysis
in
an
extended
panel
of
16
Finnish
COH
1
families
using
new
markers
localized
in
the
COH
1
region
.
By
inferring
historical
recombinations
in
conserved
haplotypes
the
COH
1
gene
was
assigned
in
the
region
of
marker
loci
D
8
S
1808
,
D
8
S
1762
and
D
8
S
546
.
Calculations
of
genetic
distances
based
on
linkage
disequilibrium
suggest
that
the
most
likely
localization
of
COH
1
is
in
the
immediate
vicinity
of
marker
locus
D
8
S
1762
.
Haplotype
analysis
suggests
the
occurrence
of
one
main
COH
1
mutation
and
possibly
one
or
two
rare
ones
in
Finland
.
This
information
will
be
useful
in
the
positional
cloning
of
the
gene
.
Diseases
Validation
Diseases presenting
"typical dysmorphic features"
symptom
cohen syndrome
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