Rare Diseases Symptoms Automatic Extraction
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Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis.
[benign recurrent intrahepatic cholestasis]
It
is
now
feasible
to
map
disease
genes
by
screening
the
genome
for
linkage
disequilibrium
between
the
disease
and
marker
alleles
.
This
report
presents
the
first
application
of
this
approach
for
a
previously
unmapped
locus
.
A
gene
for
benign
recurrent
intrahepatic
cholestasis
(
BRIC
)
was
mapped
to
chromosome
18
by
searching
for
chromosome
segments
shared
by
only
three
distantly
related
patients
.
The
screening
results
were
confirmed
by
identifying
an
extended
haplotype
conserved
between
the
patients
.
Probability
calculations
indicate
that
such
segment
sharing
is
unlikely
to
arise
by
chance
.
Searching
the
genome
for
segments
shared
by
patients
is
a
powerful
empirical
method
for
mapping
disease
genes
.
Computer
simulations
suggest
that
,
in
appropriate
populations
,
the
approach
may
be
used
to
localize
genes
for
common
diseases
.
Diseases
Validation
Diseases presenting
"benign recurrent intrahepatic cholestasis"
symptom
benign recurrent intrahepatic cholestasis
You can validate or delete this automatically detected symptom
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