Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Population screening for the mutation associated with osteogenesis imperfecta in dachshunds.
[dentinogenesis imperfecta]
Osteogenesis
imperfecta
(
OI
)
is
a
genetic
disorder
causing
defects
in
the
development
of
collagen
type
I
.
Clinical
signs
of
affected
dachshunds
include
multiple
fractures
of
bones
,
joint
hyperlaxity
and
dentinogenesis
imperfecta
.
Recently
,
a
recessive
mutation
in
the
SERPINH
1
gene
was
detected
in
dachshunds
and
enabled
the
development
of
a
DNA
test
to
identify
dachshunds
carrying
the
mutation
.
The
purpose
of
the
present
study
was
to
analyse
the
dachshund
breeding
population
for
the
frequency
of
the
SERPINH
1
mutation
among
the
nine
different
breed
varieties
in
dachshunds
,
birth
years
and
countries
of
origin
.
We
genotyped
the
OI
-associated
SERPINH
1
mutation
in
1352
dachshunds
from
12
different
European
countries
including
all
nine
varieties
.
Genotyping
was
done
using
a
restriction
fragment
length
polymorphism
validated
by
DNA
sequence
analysis
.
The
overall
frequency
of
OI
carriers
was
12
.
9
per
cent
.
Across
all
different
size
varieties
,
the
SERPINH
1
mutation
was
over-represented
in
wire-haired
dachshunds
with
17
.
3
per
cent
OI
carriers
.
Among
the
different
countries
,
the
proportion
of
OI
carriers
was
highest
in
Germany
with
20
.
4
per
cent
.
The
test
is
useful
for
dachshund
breeders
to
prevent
the
occurrence
of
OI
-affected
dogs
and
as
a
diagnostic
tool
for
veterinarians
.