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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
"premature stop codon"
symptom
aromatase deficiency
cadasil
classical phenylketonuria
cohen syndrome
cystinuria
dystrophic epidermolysis bullosa
erythropoietic protoporphyria
familial hypocalciuric hypercalcemia
junctional epidermolysis bullosa
kindler syndrome
lamellar ichthyosis
omenn syndrome
triple a syndrome
x-linked adrenoleukodystrophy
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