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Variations in the length of poly-C and poly-T tracts in intron 3 of the human ferrochelatase gene.
[erythropoietic protoporphyria]
The
third
intron
of
human
ferrochelatase
(
FECH
)
gene
contains
according
to
NCBI
,
a
poly-
C
(
11
)
and
a
poly-
T
(
24
)
tracts
which
are
located
approximately
900
bp
upstream
from
the
known
splice
modulating
SNP
IVS
3
-
48
c
/
t
.
Ferrochelatase
catalyses
the
last
step
in
heme
biosynthesis
and
a
deficiency
of
this
enzyme
results
in
the
hereditary
disorder
of
erythropoietic
protopoprhyria
(
EPP
)
.
During
the
course
of
mutation
analysis
in
the
FECH
gene
among
EPP
patients
,
we
observed
variations
in
the
length
of
the
poly-
C
and
poly-
T
tracts
.
To
study
these
variations
,
we
analyzed
a
total
of
54
individuals
of
Swiss
and
Israeli
origins
.
Among
them
,
37
were
control
subjects
(
23
individuals
with
the
genotype
t
/
t
and
14
with
the
genotype
c
/
t
)
,
10
were
unrelated
EPP
patients
(
genotype
c
/
M
)
and
7
were
unrelated
asymptomatic
mutation
carriers
(
genotype
t
/
M
)
.
The
length
of
poly-
C
tract
varied
from
10
to
16
,
that
of
poly-
T
tract
from
22
to
24
in
the
study
cohort
.
Statistic
analysis
showed
that
the
low
-expressed
FECH
allele
(
IVS
3
-
48
c
)
is
associated
with
poly-
C
12
,
C
13
and
C
15
and
poly-
T
22
.
In
addition
,
the
segregation
of
poly-
C
and
poly-
T
tracts
was
studied
in
two
Israeli
EPP
families
.
Instabilities
,
as
seen
by
both
insertion
and
deletion
of
one
nucleotide
between
two
generations
,
were
observed
only
in
the
poly-
T
tract
.
The
function
of
the
poly-
C
and
poly-
T
tracts
are
yet
to
be
explored
.
Diseases
Validation
Diseases presenting
"unrelated asymptomatic mutation carriers"
symptom
erythropoietic protoporphyria
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