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Molecular epidemiology of canine GM1 gangliosidosis in the Shiba Inu breed in Japan: relationship between regional prevalence and carrier frequency.
[gm1 gangliosidosis]
Canine
GM
1
gangliosidosis
is
a
fatal
disease
in
the
Shiba
Inu
breed
,
which
is
one
of
the
most
popular
traditional
breeds
in
Japan
and
is
maintained
as
a
standard
breed
in
many
countries
.
Therefore
,
it
is
important
to
control
and
reduce
the
prevalence
of
GM
1
gangliosidosis
for
maintaining
the
quality
of
this
breed
and
to
ensure
supply
of
healthy
dogs
to
prospective
breeders
and
owners
.
This
molecular
epidemiological
survey
was
performed
to
formulate
an
effective
strategy
for
the
control
and
prevention
of
this
disease
.
The
survey
was
carried
out
among
590
clinically
unaffected
Shiba
Inu
dogs
from
the
8
districts
of
Japan
,
and
a
genotyping
test
was
used
to
determine
nation-
wide
and
regional
carrier
frequencies
.
The
number
and
native
district
of
affected
dogs
identified
in
16
years
from
1997
to
June
2013
were
also
surveyed
retrospectively
.
Of
the
590
dogs
examined
,
6
dogs
(
1
.
02
%
,
6
/
590
)
were
carriers
:
3
dogs
(
2
.
27
%
,
3
/
132
)
from
the
Kinki
district
and
the
other
3
dogs
from
the
Hokkaido
,
Kanto
,
and
Shikoku
districts
.
The
retrospective
survey
revealed
23
affected
dogs
,
among
which
,
19
dogs
(
82
.
6
%
)
were
born
within
the
last
7
years
.
Of
the
23
affected
dogs
,
12
dogs
(
52
.
2
%
)
were
from
the
Kinki
district
.
Pedigree
analysis
demonstrated
that
all
the
affected
dogs
and
carriers
with
the
pedigree
information
have
a
close
blood
relationship
.
Our
results
showed
that
the
current
carrier
frequency
for
GM
1
gangliosidosis
is
on
the
average
1
.
02
%
in
Japan
and
rather
high
in
the
Kinki
district
,
which
may
be
related
to
the
high
prevalence
observed
over
the
past
16
years
in
this
region
.
This
observation
suggests
that
carrier
dogs
are
distributed
all
over
Japan
;
however
,
kennels
in
the
Kinki
district
may
face
an
increased
risk
of
GM
1
gangliosidosis
.
Therefore
,
for
effective
control
and
prevention
of
this
disease
,
it
is
necessary
to
examine
as
many
breeding
dogs
as
possible
from
all
regions
of
Japan
,
especially
from
kennels
located
in
areas
with
high
prevalence
and
carrier
frequency
.
Diseases
Validation
Diseases presenting
"molecular epidemiological survey"
symptom
gm1 gangliosidosis
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