Rare Diseases Symptoms Automatic Extraction
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[Mutation analysis of the MMACHC gene in a pedigree with methylmalonic aciduria].
[homocystinuria without methylmalonic aciduria]
To
identify
the
mutation
of
the
methylmalonic
aciduria
(
cobalamin
deficiency
)
CblC
type
,
with
homocystinuria
(
MMACHC
)
gene
in
a
pedigree
with
methylmalonic
aciduria
.
The
MMACHC
gene
mutation
was
detected
using
polymerase
chain
reaction
(
PCR
)
and
DNA
sequencing
.
The
MMACHC
gene
of
50
healthy
people
was
also
sequenced
as
control
.
A
new
mutation
of
146
_
154
del
CCTTCCTGG
was
found
in
the
patient
and
his
father
,
and
was
absent
in
the
controls
.
A
new
mutation
(
146
_
154
del
CCTTCCTGG
)
in
the
MMACHC
gene
was
detected
in
a
Chinese
family
with
methylmalonic
aciduria
.
