Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Carrier rates of four single-gene disorders in Croatian Bayash Roma.
[gm1 gangliosidosis]
To
assess
how
specific
population
history
,
different
migration
routes
,
isolation
,
and
endogamy
practices
contributed
to
the
distribution
of
several
rare
diseases
found
in
specific
Roma
groups
,
we
conducted
a
population-based
research
study
of
rare
disease
mutations
in
Croatian
Vlax
Roma
.
We
tested
a
total
of
427
subjects
from
Baranja
and
Međimurje
for
the
presence
of
four
mutations
causing
hereditary
motor
and
sensory
neuropathy
type
Lom
(
HMSNL
)
,
GM
1
gangliosidosis
(
GM
1
)
,
congenital
cataracts
,
facial
dysmorphism
and
neuropathy
(
CCFDN
)
,
and
limb
girdle
muscle
dystrophy
type
2
C
(
LGMD
2
C
)
,
using
the
RFLP-PCR
method
to
estimate
carrier
frequencies
.
We
identified
a
total
of
four
individuals
heterozygous
for
the
mutation
causing
HMSNL
in
the
Baranja
population
,
with
a
carrier
rate
amounting
to
1
.
5
%
.
Carriers
for
other
three
mutations
causing
GM
1
,
CCFDN
,
and
LGMD
2
C
were
not
found
in
our
sample
.
The
carrier
rate
for
the
HMSNL
mutation
in
Baranja
is
lower
than
in
other
Vlax
Roma
groups
.
In
addition
,
distinct
differences
in
carrier
rates
between
the
Croatian
Vlax
groups
point
to
different
genetic
history
,
despite
their
belonging
to
the
same
Roma
migration
category
and
subgroup
.
The
difference
in
carrier
rates
is
either
the
result
of
admixture
or
the
reflection
of
a
greater
extent
of
genetic
drift
since
recent
founding
,
maintained
by
a
high
degree
of
endogamy
.
Diseases
Validation
Diseases presenting
"high degree"
symptom
alpha-thalassemia
cadasil
carcinoma of the gallbladder
cohen syndrome
congenital diaphragmatic hernia
congenital toxoplasmosis
familial mediterranean fever
gm1 gangliosidosis
harlequin ichthyosis
heparin-induced thrombocytopenia
hodgkin lymphoma, classical
kindler syndrome
oligodontia
phenylketonuria
primary effusion lymphoma
pyomyositis
triple a syndrome
trochlear dysplasia
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