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[DNA analysis in classic phenylketonuria--screening for mutations and haplotype analysis in Slovak families].
[classical phenylketonuria]
Authors
in
this
contribution
present
the
results
of
screening
for
mutations
in
PAH
gene
responsible
for
classical
phenylketonuria
(
PKU
)
,
and
that
of
haplotype
analysis
,
based
on
DNA
analysis
in
49
Caucasian
families
with
at
least
one
affected
child
from
Slovak
Republic
.
The
clearly
predominant
PKU
mutation
in
this
population
was
the
R
408
W
with
proportion
of
45
.
9
%
among
all
PKU
mutations
.
In
addition
four
other
mutations
have
been
identified
:
IVS
12
nt
1
-
10
.
2
%
,
R
158
Q
-
7
.
1
%
,
R
261
Q
-
7
.
1
%
,
and
R
252
W-
2
.
0
%
.
the
overall
proportion
of
identified
PKU
mutations
equals
72
.
4
%
.
Considering
the
fact
,
that
these
mutations
are
amenable
to
rapid
and
rather
simple
detection
using
PCR
,
the
DNA
analysis
is
recommended
as
a
method
of
direct
diagnosis
in
clinical
practice
as
well
as
in
prevention
.
