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Association between minihaplotypes and mutations at the PAH locus in Polish hyperphenylalaninemic patients.
[classical phenylketonuria]
Hereditary
hyperphenylalaninemia
(
HPA
)
is
a
disorder
of
amino
acid
metabolism
and
results
from
an
insufficiency
of
hepatic
phenylalanine
hydroxylase
(
PAH
)
.
HPA
phenotypes
form
a
spectrum
ranging
from
classical
phenylketonuria
(
PKU
)
to
mild
hyperphenylalaninemia
(
MHP
)
.
The
phenotypic
diversity
reflects
heterogeneity
at
the
molecular
level
,
and
more
than
320
different
mutations
in
the
PAH
gene
are
known
to
date
.
The
association
of
3
mutations
(
R
408
W
,
IVS
10
and
A
403
V
)
common
in
different
European
populations
with
a
variable
number
tandem
repeat
(
VNTR
)
and
short
tandem
repeat
sites
(
minihaplotype
)
in
the
PAH
gene
was
examined
in
a
group
of
Polish
PKU
and
MHP
patients
.
Additionally
,
minihaplotypes
were
established
for
another
16
mutations
.
The
presented
data
support
the
hypothesis
that
the
R
408
W
/
VNTR
3
/
STR
238
allele
originated
among
pre-
Indo
-
Europeans
on
the
territory
in
present-
day
Lithuania
and
Belarus
.
Mutation
IVS
10
nt
-
11
g--
>
a
(
IVS
10
)
is
strongly
associated
with
VNTR
7
/
STR
250
minihaplotype
and
is
possibly
of
Mediterranean
origin
.
Diseases
Validation
Diseases presenting
"short tandem repeat sites"
symptom
classical phenylketonuria
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