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[Molecular genetic study of acute intermittent porphyria in Russia: mutation analysis and functional polymorphism search in porphobilinogen deaminase gene].
[erythropoietic protoporphyria]
Acute
intermittent
porphyria
(
AIP
)
is
an
autosomal
dominant
hereditary
disease
,
caused
by
partial
deficiency
of
porphobilinogen
deaminase
(
PBGD
)
,
one
of
the
key
enzymes
ofheme
biosynthesis
.
This
study
describes
molecular
genetics
of
AIP
in
Russia
.
Mutation
analysis
of
PBGD
gene
in
70
unrelated
patients
revealed
47
various
genetic
defects
,
28
of
which
had
not
been
described
previously
.
Mutations
53
delT
and
Argl
73
Trp
(
recorded
8
times
,
in
total
23
%
)
proved
to
be
the
most
common
in
Russia
.
Microdeletion
53
delThas
monophyletic
origin
and
was
found
only
in
Russia
.
Molecular
genetic
examination
of
132
relatives
of
AIP
patients
from
40
families
revealed
52
latent
carriers
of
the
disease
.
Low
(
about
10
%
)
AIP
penetrance
indicates
that
a
mutation
in
the
PBGD
gene
is
an
important
but
not
sufficient
prerequisite
for
clinical
manifestation
of
the
disease
.
Modulation
of
penetrance
in
erythropoietic
protoporphyria
by
coinheritance
of
a
mutant
allele
and
a
functionally
defective
wild
type
allele
of
ferrochetalase
gene
has
been
shown
previously
.
We
hypothesized
that
similar
mechanism
works
in
AIP
.
Sequencing
of
the
full
length
PBGD
genes
from
unrelated
AIP
patients
as
well
as
SN
P
analysis
,
and
the
analysis
of
abnormal
PBGD
mRNA
splicing
showed
that
in
case
ofAIP
,
this
hypothesis
is
not
true
and
some
other
factors
are
responsible
for
the
penetrance
of
this
disease
.
Diseases
Validation
Diseases presenting
"dominant hereditary disease"
symptom
dentinogenesis imperfecta
erythropoietic protoporphyria
hereditary cerebral hemorrhage with amyloidosis
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