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Assignment of human xanthine dehydrogenase gene to chromosome 2p22.
[]
Xanthine
dehydrogenase
(
XDH
,
EC
1
.
1
.
1
.
204
)
oxidizes
a
variety
of
purines
,
pterins
,
and
other
heterogenic
nitrogen
compounds
,
serving
as
a
rate-limiting
enzyme
in
nucleic
acid
degradation
.
The
genetic
defect
of
XDH
results
in
hereditary
xanthinuria
and
other
disorders
in
purine
metabolism
.
Based
on
the
cloning
and
sequencing
results
of
human
XDH
cDNA
in
our
laboratory
,
we
studied
the
localization
and
sublocalization
of
the
XDH
gene
.
A
Version
3
.
0
human-hamster
somatic
cell
hybrid
PCRable
DNA
panel
and
specific
PCR
primers
derived
from
human
XDH
cDNA
for
amplification
were
used
to
assign
the
XDH
gene
to
human
chromosome
2
.
The
fidelity
of
the
PCR
product
was
confirmed
by
nucleotide
sequencing
the
PCR
product
.
The
assignment
of
the
XDH
gene
to
chromosome
2
at
band
p
22
was
established
by
fluorescence
in
situ
hybridization
on
human
metaphase
chromosomes
using
a
clone
from
a
pWE
15
cosmid
library
containing
the
XDH
gene
.
The
results
should
be
useful
for
further
studies
of
the
molecular
basis
for
hereditary
xanthinuria
and
other
genetic
disorders
related
to
abnormal
XDH
activity
.
