Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[Advances in the diagnosis of phenylketonuria with the introduction of direct detection of PAH gene mutation].
[classical phenylketonuria]
Phenylketonuria
is
as
regards
the
genotype
a
very
heterogenous
disease
.
Successful
prenatal
and
postnatal
DNA
diagnosis
calls
for
knowledge
of
different
mutations
in
a
given
population
.
The
objective
of
the
investigation
was
to
introduce
direct
detection
of
21
mutations
in
the
gene
for
phenylalanine
hydroxylase
and
to
find
the
distribution
and
frequency
of
these
mutations
in
the
population
of
northern
and
southern
Moravia
.
The
authors
analyzed
a
group
of
95
patients
where
according
to
phenotypic
classification
classical
phenylketonuria
was
involved
which
comprised
190
mutant
alleles
.
The
presence
of
mutations
was
assessed
by
means
of
a
polymerase
chain
reaction
of
a
Perkin
Elmer
DNA
Thermal
Cycler
480
.
From
the
total
number
of
21
mutations
which
were
sought
,
11
were
identified
in
our
population
,
which
accounts
for
80
%
of
all
mutations
.
It
was
revealed
that
mutation
R
408
W
is
found
in
55
.
3
%
of
our
patients
.
Twenty
per
cent
of
the
mutations
are
still
unknown
.
This
investigation
laid
the
foundations
for
direct
DNA
diagnosis
of
phenylketonuria
in
the
Czech
Republic
.
The
results
assembled
in
the
Moravian
region
suggest
that
our
population
is
as
regards
genotypes
relatively
homogenous
.
This
gives
great
hope
of
successful
prenatal
diagnosis
and
postnatal
genotype
classification
.
