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Evaluation of vitamin D receptor (VDR) gene polymorphisms (FokI, TaqI and ApaI) in a family with dentinogenesis imperfecta.
[dentinogenesis imperfecta]
Dentinogenesis
imperfecta
Type
II
(
DGI
-
II
)
is
a
condition
inherited
as
an
autosomal
dominant
trait
and
characterized
by
abnormal
dentine
structure
affecting
both
the
primary
and
secondary
dentitions
.
The
genetic
etiology
of
the
disease
still
remains
unclear
,
suggesting
a
genetically
heterogeneous
background
.
The
aim
of
this
study
is
to
manifest
briefly
DGI
-
II
and
to
investigate
the
association
between
BsmI
,
TaqI
and
FokI
polymorphisms
of
Vitamin
D
receptor
(
VDR
)
gene
and
dentinogenesis
imperfecta
type
II
in
a
Turkish
family
by
PCR-RFLP
methodology
.
The
affected
mother
and
her
two
affected
daughters
were
bb
for
BsmI
polymorphism
,
whereas
her
unaffected
son
and
her
husband
were
Bb
for
the
same
polymorphism
.
One
of
the
affected
children
was
tt
,
the
rest
of
the
family
were
Tt
for
TaqI
polymorphism
,
and
all
of
the
enrolled
subjects
were
FF
for
FokI
polymorphism
.
As
a
conclusion
,
BsmI
polymorphism
bb
seems
to
be
associated
with
(
DGI
-
II
)
,
but
should
be
examined
in
larger
numbers
in
order
to
be
considered
as
a
risk
factor
.