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Understanding the implications of the PAX9 gene in tooth development.
[oligodontia]
Tooth
agenesis
is
characterised
by
the
congenital
absence
of
one
or
more
teeth
.
The
Pax
9
gene
has
been
associated
with
nonsyndromic
forms
.
To
investigate
the
molecular
mechanisms
,
we
evaluated
specific
haplotypes
frequency
in
exon
3
of
the
Pax
9
gene
in
26
patients
and
21
controls
,
using
an
Italian
population
.
P
resence
of
His
239
H
is
and
the
Ala
240
P
ro
were
confirmed
in
exon
3
of
the
Pax
9
gene
.
A
frequency
of
20
.
2
€
of
the
T
allele
at
position
717
and
a
C
frequency
of
33
€
of
Ala
240
P
ro
polymorphism
,
that
reached
40
.
5
€
in
the
control
group
,
were
observed
.
The
39
C
/
C-
240
C
/
C
or
G
/
Chaplotype
which
we
defined
Pax
9
hapl
a
had
a
proportion
of
61
.
9
€
in
control
individuals
.
The
frequency
of
Pax
9
hapl
a
tested
in
the
patients
was
different
from
controls
,
being
81
.
3
€
in
normalcy
and
18
.
8
€
in
oligodontia
(
p
<
0
.
05
)
.
Our
observations
suggest
that
Pax
9
hapl
a
may
have
a
protective
effect
against
sporadic
oligodontia
.