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A random Abstract
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Molecular analysis of PKU in Ireland.
[classical phenylketonuria]
Classical
phenylketonuria
(
PKU
:
McKusick
No
.
261600
)
is
caused
by
mutations
occurring
at
the
phenylalanine
hydroxylase
(
PAH
)
locus
on
chromosome
12
and
has
a
prevalence
in
Ireland
of
1
in
4500
.
We
examined
304
independent
alleles
from
350
patients
for
the
presence
of
six
mutations
and
have
characterized
VNTR
alleles
within
the
minisatellite
region
3
'
to
the
PAH
gene
in
patients
carrying
the
most
prevalent
mutation
.
R
408
W
was
the
most
common
mutation
found
,
with
a
relative
frequency
of
42
%
.
All
other
mutations
had
relative
frequencies
of
<
10
%
.
VNTR
analysis
showed
that
the
R
408
W
mutation
is
associated
with
the
VNTR-
8
allele
in
the
Irish
population
,
indicating
that
R
408
W
is
associated
with
RFLP
haplotype
1
.
This
differs
from
that
reported
from
eastern
Europe
where
R
408
W
is
associated
with
RFLP
haplotype
2
/
VNTR-
3
;
an
observation
which
has
led
several
groups
to
propose
a
Balto
-
Slavic
origin
for
this
mutation
.
These
results
support
the
hypothesis
of
a
second
,
independent
founding
event
for
the
R
408
W
mutation
on
an
RFLP
haplotype
1
VNTR-
8
chromosome
background
in
the
Irish
/
Celtic
population
.