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Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations.
[classical phenylketonuria]
Mutations
,
haplotypes
,
and
other
polymorphic
markers
in
the
phenylalanine
hydroxylase
(
PAH
)
gene
were
analysed
in
133
unrelated
Czech
families
with
classical
phenylketonuria
(
PKU
)
.
Almost
95
%
of
all
mutant
alleles
were
identified
,
using
a
combination
of
PCR
and
restriction
analysis
,
denaturing
gradient
gel
electrophoresis
(
DGGE
)
,
and
sequencing
.
A
total
of
30
different
mutations
,
16
various
RFLP
/
VNTR
haplotypes
,
and
four
polymorphisms
were
detected
on
266
independent
mutant
chromosomes
.
The
most
common
molecular
defect
observed
in
the
Czech
population
was
R
408
W
(
54
.
9
%
)
.
Each
of
the
other
29
mutations
was
present
in
no
more
than
5
%
of
alleles
and
13
mutations
were
found
in
only
one
PKU
allele
each
(
0
.
4
%
)
.
Four
novel
mutations
G
239
A
,
R
270
fsdel
5
bp
,
A
342
P
,
and
IVS
11
nt
-
8
g--
>
a
were
identified
.
In
14
(
5
.
1
%
)
alleles
,
linked
to
four
different
RFLP
/
VNTR
haplotypes
,
the
sequence
alterations
still
remain
unknown
.
Our
results
confirm
that
PKU
is
a
heterogeneous
disorder
at
the
molecular
level
.
Since
there
is
evidence
for
the
gene
flow
coming
from
northern
,
western
,
and
southern
parts
of
Europe
into
our
Slavic
population
,
it
is
clear
that
human
migration
has
been
the
most
important
factor
in
the
spread
of
PKU
alleles
in
Europe
.
Diseases
Validation
Diseases presenting
"independent mutant chromosomes"
symptom
classical phenylketonuria
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