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Prenatal diagnosis by minisatellite analysis in Italian families with phenylketonuria.
[classical phenylketonuria]
A
polymorphic
short
tandem
repeat
(
STR
)
in
intron
3
(
Goltsov
et
al
.
,
1993
)
and
a
variable
number
of
tandem
repeats
(
Hind
III
-VNTR
)
flanked
by
two
constant
Hind
III
sites
(
Golstov
et
al
.
,
1992
)
have
been
recently
identified
in
the
human
phenylalanine
hydroxylase
(
PAH
)
gene
.
These
polymorphisms
are
easily
detected
by
the
polymerase
chain
reaction
(
PCR
)
and
gel
electrophoresis
.
We
report
on
the
use
of
these
two
novel
polymorphisms
in
three
Italian
families
with
pregnancies
at
risk
for
classical
phenylketonuria
(
PKU
)
.
A
carrier
status
for
PKU
was
ascertained
in
two
fetuses
;
the
third
family
refused
prenatal
diagnosis
,
although
informativeness
was
shown
to
be
complete
.
Diseases
Validation
Diseases presenting
"polymorphic short tandem repeat"
symptom
classical phenylketonuria
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