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Four novel mutations in the β-galactosidase gene identified in infantile type of GM1 gangliosidosis.
[gm1 gangliosidosis]
The
aim
of
this
study
is
to
find
out
mutations
of
Turkish
GM
1
gangliosidosis
patients
and
to
make
genotype-phenotype
correlations
.
β-galactosidase
activities
were
measured
by
using
fluorometric
substrate
.
Mutation
screening
of
16
exons
of
β-galactosidase
gene
and
mutation
detection
were
done
by
PCR-SSCP
and
DNA
sequencing
,
respectively
.
Four
new
mutations
,
c
.
188
_
189
insT
in
exon
2
,
c
.
569
_
570
insA
in
exon
6
,
p
.
K
142
Q
in
exon
4
,
p
.
G
190
D
in
exon
6
,
and
one
known
mutation
p
.
P
549
L
in
exon
15
,
were
identified
in
the
β-galactosidase
gene
in
5
Turkish
patients
.
Mutations
in
exons
4
and
6
are
in
the
active
site
and
mutation
in
exon
is
in
the
galactose-binding
domain
of
the
β-galactosidase
gene
.
T
his
is
the
first
mutational
analysis
performed
in
Turkish
GM
1
gangliosidosis
patients
and
shows
the
molecular
heterogeneity
of
the
disease
in
Turkish
population
.
All
identified
mutations
result
in
severe
enzyme
deficiency
and
infantile
phenotype
.
