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[Genetic diagnosis of phenylketonuria. IV. Mutations of phenylalanine hydroxylase gene in Caucasian and Gypsy populations in Czech and Slovakia Republics].
[classical phenylketonuria]
Direct
sequencing
was
conducted
on
the
regions
of
the
exon
7
and
12
in
the
phenylalanine
hydroxylase
(
PAH
)
gene
amplified
by
the
polymerase
chain
reaction
,
using
solid-phase
technology
involving
the
biotin
streptavidin
system
.
A
novel
mutation
and
seven
previously
known
mutations
were
identified
in
the
PAH
genes
among
15
Caucasians
and
10
Gypsies
in
the
Czech
and
Slovakia
republics
,
affected
with
classical
phenylketonuria
(
PKU
)
.
Two
of
these
substitutions
(
R
243
X
and
G
272
X
)
resulted
in
the
generation
of
a
premature
stop
codon
,
and
a
single
base
transition
of
G
to
A
at
codon
261
resulted
in
the
substitution
of
Arg
for
Gln
(
R
261
Q
)
.
These
three
mutations
together
accounted
for
16
.
7
%
of
PKU
alleles
among
15
Caucasians
.
The
R
252
W
mutation
was
detected
in
these
two
groups
:
two
Caucasians
were
compound
heterozygous
for
the
P
281
L
or
R
408
W
mutations
(
6
.
7
%
of
all
mutant
alleles
)
.
However
,
all
10
Gypsy
PKU
patients
were
homozygous
for
the
R
252
W
transition
.
The
R
408
W
mutation
accounted
for
43
%
of
PKU
alleles
in
15
Caucasian
PKU
patients
.
A
novel
heterozygous
C-
to
-
G
transversion
at
the
third
base
of
codon
263
in
the
exon
7
,
resulting
in
the
substitution
of
Phe
for
Leu
(
F
2
63
L
)
,
was
detected
in
a
Caucasian
PKU
patient
(
3
.
3
%
of
all
mutant
alleles
)
.
In
this
study
,
we
revealed
a
novel
PKU
mutation
of
the
F
2
63
L
in
Caucasian
populations
and
a
high
-risk
PKU
mutation
of
the
R
252
W
in
Gypsy
populations
.
Diseases
Validation
Diseases presenting
"previously known mutations"
symptom
canavan disease
classical phenylketonuria
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