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Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?
[canavan disease]
Ashkenazi
Jewish
(
AJ
)
population
is
at
increased
risk
for
several
recessive
inherited
diseases
.
Therefore
,
carrier
testing
of
AJ
members
is
important
in
order
to
identify
couples
at
risk
of
having
offspring
with
an
autosomal
recessive
disorder
.
In
the
present
study
,
a
database
containing
the
results
of
28
410
genotyping
assays
was
screened
.
Ten
thousand
seventy
eight
nonselected
healthy
members
of
the
AJ
population
were
tested
for
carrier
status
for
the
following
diseases
;
Gaucher
disease
(
GD
)
,
cystic
fibrosis
(
CF
)
,
Familial
dysautonomia
(
FD
)
,
Alpha
1
antitrypsin
(
A
1
AT
)
,
Mucolipidosis
type
4
(
ML
4
)
,
Fanconi
anemia
type
C
(
FAC
)
,
Canavan
disease
(
CD
)
,
Neimann-
Pick
type
4
(
NP
)
and
Bloom
syndrome
(
BLM
)
.
The
results
demonstrated
that
635
members
were
carriers
of
one
mutation
and
30
members
were
found
to
be
carriers
of
two
mutations
in
the
different
genes
related
to
the
development
of
the
above
mentioned
diseases
.
GD
was
found
to
have
the
highest
carrier
frequency
(
1
:
17
)
followed
by
CF
(
1
:
23
)
,
FD
(
1
:
29
)
,
A
1
AT
(
1
:
65
)
,
ML
4
(
1
:
67
)
and
FAC
(
1
:
77
)
.
The
carrier
frequency
of
CD
,
NP
and
BLM
was
1
:
82
,
1
:
103
and
1
:
157
,
respectively
.
The
frequency
of
the
disease-causing
mutations
screened
routinely
among
the
AJ
population
indicated
that
there
are
rare
mutations
with
very
low
frequencies
.
The
screening
policy
of
the
disease-causing
mutations
should
be
reevaluated
and
mutations
with
a
high
frequency
should
be
screened
,
while
rare
mutations
with
a
lower
frequency
may
be
tested
in
partners
of
carriers
.
Diseases
Validation
Diseases presenting
"nonselected healthy members"
symptom
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