Rare Diseases Symptoms Automatic Extraction
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Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC.
[benign recurrent intrahepatic cholestasis]
Loci
for
two
inherited
liver
diseases
,
benign
recurrent
intrahepatic
cholestasis
(
BRIC
)
and
progressive
familial
intrahepatic
cholestasis
type
1
(
PFIC
1
)
,
have
previously
been
mapped
to
18
q
21
by
a
search
for
shared
haplotypes
in
patients
in
two
isolated
populations
.
This
paper
describes
the
use
of
further
haplotype
evaluation
with
a
larger
sample
of
patients
for
both
disorders
,
drawn
from
several
different
populations
.
Our
assessment
places
both
loci
in
the
same
interval
of
less
than
1
cM
and
has
led
to
the
discovery
of
the
PFIC
1
/
BRIC
gene
,
FIC
1
;
this
discovery
permits
retrospective
examination
of
the
general
utility
of
haplotype
evaluation
and
highlights
possible
caveats
regarding
this
method
of
genetic
mapping
.
