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Molecular characterization of cystinuria in south-eastern European countries.
[cystinuria]
Cystinuria
is
an
autosomal
recessive
disorder
caused
by
defective
transport
of
cystine
and
dibasic
amino
acids
in
the
proximal
renal
tubules
and
small
intestine
.
So
far
,
more
than
128
mutations
in
SLC
3
A
1
gene
,
and
93
in
SLC
7
A
9
gene
have
been
described
as
a
cause
of
cystinuria
.
We
present
a
molecular
characterization
of
the
cystinuria
in
47
unrelated
south
-
east
European
families
.
The
molecular
methodology
included
direct
sequencing
,
single
strand
conformational
polymorphism
,
and
restriction
fragment
length
polymorphism
.
A
total
of
93
(
94
.
9
%
)
out
of
98
unrelated
cystinuric
chromosomes
have
been
characterized
.
Mutations
in
SLC
3
A
1
gene
account
for
64
.
3
%
and
in
SLC
7
A
9
gene
for
30
.
6
%
of
the
cystinuric
chromosomes
.
Ten
different
mutations
in
SLC
3
A
1
gene
were
found
,
and
two
of
them
were
novel
(
C
2
42
R
and
L
573
X
)
,
while
in
SLC
7
A
9
gene
seven
mutations
were
found
,
of
which
three
were
novel
(
G
73
R
,
V
375
I
and
c
.
1048
_
1051
delACTC
)
.
The
most
common
mutations
in
this
study
were
T
216
M
(
24
.
5
%
)
,
M
467
T
(
16
.
3
%
)
and
R
365
L
(
11
.
2
%
)
in
SLC
3
A
1
and
G
105
R
(
21
.
4
%
)
in
SLC
7
A
9
gene
.
A
population
specificity
of
cystinuria
mutations
was
observed
;
T
216
M
mutation
was
the
only
mutation
present
among
Gypsies
,
G
105
R
was
the
most
common
mutation
among
Albanians
and
Macedonians
,
and
R
365
L
among
Serbs
.
The
results
of
this
study
allowed
introduction
of
rapid
,
simple
and
cost-effective
genetic
diagnosis
of
cystinuria
that
enables
an
early
preventive
care
of
affected
patients
and
a
prenatal
diagnosis
in
affected
families
.
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Validation
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"prenatal diagnosis"
symptom
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zellweger syndrome
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