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Major histocompatibility complex haplotypes in Spanish immunoglobulin A deficiency patients: a comparative fine mapping microsatellite study.
[]
The
most
consistent
finding
in
Immunoglobulin
A
deficiency
(
IgAD
)
genetics
is
the
presence
of
susceptibility
factors
located
in
the
major
histocompatibility
complex
(
MHC
)
.
We
have
described
the
existence
of
at
least
two
distinct
susceptibility
genes
in
the
MHC
present
in
different
haplotypes
.
The
aim
of
the
present
study
was
to
locate
with
precision
the
susceptibility
genes
present
in
DR
1
-
and
DR
7
-
positive
haplotypes
,
taking
advantage
of
their
structural
diversity
,
as
opposed
to
the
conserved
nature
of
the
DR
3
-
extended
susceptibility
haplotype
(
DR
3
/
B
8
)
,
that
hampers
a
more
exhaustive
scrutiny
.
A
detailed
analysis
with
20
markers
along
the
MHC
in
the
400
haplotypes
present
in
100
IgAD
families
,
with
special
density
at
Class
II
locations
,
was
performed
to
define
the
minimal
shared
susceptibility
region
present
in
all
haplotypes
carrying
DR
1
and
,
on
the
other
hand
,
in
all
DR
7
-
positive
haplotypes
.
A
comparison
of
the
fine
microsatellite
allele
structure
of
DR
-extended
haplotypes
in
the
Spanish
population
with
those
described
for
Swedish
and
British
families
revealed
no
difference
in
DRB
1
*
0101
and
DRB
1
*
0102
haplotypes
between
both
populations
.
Our
data
suggest
that
the
etiologic
mutation
present
in
DRB
1
*
0101
and
DRB
1
*
0102
in
North
Europe
(
Sweden
and
UK
)
is
missing
in
the
Spanish
DRB
1
*
0101
haplotypes
but
is
present
in
the
DQB
1
/
DRB
1
region
in
DRB
1
*
0102
haplotypes
.
The
results
obtained
also
indicated
that
the
most
likely
susceptibility
gene
in
the
DR
7
haplotypes
is
either
DQA
1
or
DRB
1
.
