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[Novel compound heterozygous mutations of TGM1 gene identified in a Chinese collodion baby].
[lamellar ichthyosis]
To
identify
potential
mutations
in
a
Chinese
collodion
baby
.
The
patient
was
investigated
clinically
.
DNA
was
extracted
from
peripheral
blood
of
the
baby
and
his
parents
.
All
coding
exons
(
exons
2
-
15
)
and
splicing
sites
of
transglutaminase
1
(
TGM
1
)
were
amplified
by
polymerase
chain
reaction
(
PCR
)
.
Mutation
detection
was
performed
by
directed
sequencing
of
the
PCR
products
.
A
total
of
100
healthy
unrelated
subjects
were
used
as
controls
.
Haplotypes
were
constructed
with
microsatellites
flanking
the
locus
,
and
TGM
1
genotypes
of
the
family
were
used
to
determine
parental
origins
of
the
mutations
.
CLUSTAL
X
(
1
.
81
)
was
employed
to
analyze
cross-species
conservation
of
the
mutant
protein
sequence
.
T
he
boy
was
found
to
be
a
compound
heterozygote
for
two
novel
mutations
:
c
.
420
A
>
G
(
I
140
M
)
from
his
father
and
c
.
832
G
>
A
(
G
278
R
)
from
his
mother
,
with
the
former
occurring
in
the
transglutaminase
N
domain
and
the
latter
between
transglutaminase
N
and
transglutaminase-like
domains
.
Both
mutations
were
absent
from
the
control
subjects
.
The
boy
's
condition
was
caused
by
two
novel
compound
heterozygous
mutations
of
c
.
420
A
>
G
and
c
.
832
G
>
A
of
TGM
1
.
Author
's
results
may
provide
new
clues
for
molecular
diagnosis
of
this
disease
.
Diseases
Validation
Diseases presenting
"his parents"
symptom
lamellar ichthyosis
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