Download Genetics of the Bombay Phenotype

Genetics
By
I
of
J.
EDMOND
YUNIS,
N 1952 BHENDE
B-O system.
This
ET
blood
2 suggested
recessive
type.#{176}
of a homozygous
antigens.
Subsequently,
might
be the product
of
the
Bombay
M.
JANET
Phenotype
SVABDAL
A.
ROBERT
AND
BRIDGES
1
described
a new blood
group
related
to the Agroup
is now generally
called
the Bombay
phenothat
this blood
group
results
from
the presence
gene
which
inhibits
the formation
of A, B, and H
Watkins
a gene
and
independent
the
Bombay
phenotype
is the rare
strated
in a family
of Italian-American
effectively
suppressed
family
also showed
the expression
that
the H-h
A total
of thirteen
been
reported
from
families
India.59
3
of
homozygous
extraction
of the
locus
was
postulated
that the
the A-B-O
system,
hh.
that
Levine
et
the Bombay
B and secretor
not linked
to
H
antigen
and that
al.4 demonphenotype
genes.
This
the A-B-O
with
individuals
of the Bombay
These
have
occurred
in multiple
phenotype
castes
same
locus.
and
have
in
both
Hindus
and
Muslims.
In addition,
Italian-American,4
Irish,10
FrenchAmerican,’1
English-American,
and German
12 family
studies
have
been
reported.
Although
the frequency
of the h gene
is quite
low,
it appears
to be
present
in widely
separated
population
groups.
Bhatia
and
7
have
estimated
that
one
in
seventy-seven
Marathi
speaking
people
may
be
heter-
ozygotes.
The
shown
results
of family
studies,
serologic
and biochemical
that the A, B, H and Lewis
antigens
(Lea
and
of sequential
stance.13’14
The
add
due
N-acetyl-galactosamine
H substance.
A fucosyl
either
of the
action
of
products
transferases
that
modify
a common
of the A and B genes
are glycosyl
and adds
a fucose
residue
in 1-*2
the precursor
substance
to produce
the product
of the
to the penultimate
Lewis
gene,
may
N-acetylglucosamine
From
the
Minneapolis,
Department
Minn.
submitted
July
investigations
) are the
Le’
of
Laboratory
or galactose
transferase
to the
is the
linkage
to the
the H antigen.
add
another
residue
Medicine,
precursor
transferases
terminal
product
terminal
Another
galactose
fucosyl
of
#{176}Various
J.
Minnesota
YUNI5,
notations
have
been
employed
to
designate
the
residue
transferase,
in 1->4
precursor
10, 1968;
accepted
for publication
October
8, 1968.
M.D. : Professor
and
Director,
Blood
Bank
and
JANET
M. SvARDAL,
M.S. : Instructor,
Department
of Laboratory
Medicine.
BRIDGES,
M.D. : Associate
Professor,
Department
of Laboratory
Medicine,
Minnesota
Hospitals,
Minneapolis,
Minn.
First
EDMOND
Bombay
subthat
galactose
resiof the H gene
fucose
residue
of either
the
University
have
products
of
linkage
sub-
Hospitals,
Immunologq.
ROBERT
University
phenotype.
In
A.
of
this
paper,
we will refer
to the normal
allele
as H and the mutant
as h. The genotypes
of
the two homozygous
types and the heterobygote
may be written
as H/H,
h/h
(the
Bombay
phenotype)
and H/h.
The use of the symbol
h is not meant
to imply
that gene h produces
some alternate gene product. From the study to be presented,
we believe
that the mutant
is actually
a deletion
or inactivation
of the H gene.
124
BLOOD,
VOL.
33,
No.
1 (JmusY),
1969
BOMBAY
125
PHENOTYI’E
stance
the
of
H substance
to produce
respectively
the
Lewis
and
the
Lewisb
antigens.
This
report
describes
a remarkably
that
has a greater
number
report.
These
include
the
ten
children.
the
Bombay
parents
Bombay
The
father,
( Hh)
of which
locus.
The
genetic
with
a fairly
spread
although
locus.
one
product
of the
lar areas
of
Lewis-negative
occurrence
tions
that
have
been
Bombay
locus.
of the
surgery.
degree
was
Balassore
and
preserved
of
minutes
separated.
and
blood
were
Standard
and
serum
reported
on
saliva
amounts
of
Lea
dilutions.
Lewis-positive
father
India
as
well
as
centrifuged
samples
determined
1 :4
substance
in
to ten
can
RESULTS
The
are
phenotypes
shown
#{176}Sincethe
status
of
the
expressing
gene
of
product.
the
the
1 and
in Tables
phenotype
Lewis
cells
gene
seems
Lewis
clearer
would
then
abbreviate
the gene
and
1/1
for the Lewis
negative
This hypothesis
was originated
crossin a pop-
found
to
Hospitals
cousins,
of the
language).
minutes,
and
to
mail
and
the
in
ACD
from
all
bath
for
water
the
of
for
but
possible
a boiling
be
propositus
Clotted
when
in
air
supernatant
fluids
Minneapolis,
investigations.18
by
Minnesota,
at
the
to use
the
Lea
Lea
and
1 : 4 dilution
are
relatively
large
antibody
at
Leb
substances.
and
Le’
both
In
substance
DIscussIoN
substances
from
negative
the
results
have
neutralize
both
substances
Inhibition
nonsecretors
will
detected
Lewis
Wiener.19
contain
and
than
that
the
Bombay
different
were
obtained
general,
2. Erythrocytes
and
to us
existence
trait
types.17
relatives
heated
serologic
which
AND
associatdwiththe
we have chosen
individual,
This
red
10
sent
salivas
be
the
were
In
saliva
secretor
substance
dilution.
the
suggest
that the
with
propositus
described
1 :50.
compatible
the wide-
days.
all
as
their
A-B-H
the
for
for
and
and
Lewis-negative
haptoglobin
were
were
eight
were
is
both
used
to explain
both
the
H and
weak
Lewis
reac-
( Bengali
samples
collection,
employed
the
phenotype
from
saliva,
Saliva
within
at
mechanism
of
obtained
Orissa,
were
heterozygous
METHODS
were
of
saliva
to
from
Balassore,
Orissa,
India
was
to the
University
of Minnesota
towns
diluted
such
individuals,
Le
is detected
at a 1:50
same
AND
the
family.
born
unequal
crossing
over
that
results
in
but unequal
crossing
over in particu-
The
and
studied
methods
saliva
the
after
All
U.S.A.,
and
samples
specimens,
members
fifteen
mother
Blood
neighboring
blood
available
in
The
at
children
We would
H gene and
also serve
to maintain
the
to be the case for certain
unknown.
of
other
LewLr
genes
may
also be
phenotype
and
the weak
The propositus,
a 33-year
old male
Bombay
phenotype
when
admitted
generations
to be heterozygous
in this article
would
explain
of the
MATERIALS
elective
the
the Lewis
a duplication
reported.9’15”#{176}
three
in any other
previous
sister,
and five of her
report
reported
that
of homologous
but
Homologous
products
would
ulation
as is presumed
first
and
H gene.f
over
the
the
at
H and
Bombay
the
spanning
than
her
is presumed
also
homozygous
of balanced
polymorphism
Lewis
gene#{176}evolved
from
gene
is the
the deletion
is
of the family
genetic
mechanism
limited
family,
deceased,
This
was
analysis
common
though
large
of Bombay
individuals
mother
of the propositus,
secreted
individuals
Lewis
gene
is
the term
Lewis
for
Lea+b
the
modified
notation
to L/L,
and L/1
individual.
by Robert
A. Bridges.
for
without
and
for
the
Lewis
saliva
as having
by
positive
individual
Leab+
in
identified
the
Lea-b-
positive
the
an
secretor
individual
appropriate
notation.
individuals
We
126
YUNIS,
Table
1.-ABO
and Lewis
A, B, H, Lea and
Red
Leb
SVARDAL,
Cell Phenotypes
and Secretion
Substances
in the Saliva
BRIDGES
of
Secretion
Red
Cell
Phenotype
Secretion
of
In
A-B-O
11-5
11-6
11-7
11-8
11-9
11-11
11-12
11-13
11-14
11-15
11-16
11-17
11-18
11-19
II2oo*
11-21
11-22
11-23
11-24
111_lee
111-2
111-3
111-4
111-5
111-6
111-7
111-8
111-9
111-10
111-11
111-12
Oh
B
Oh
B
B
0
Oh
B
B
0
B
Oh
Oh
A
B
0
Oh
B
B
Oh
B
B
B
B
B
B
0
A
B
B
B
B
B
0
A
A
B
0
B
0
A+
indicates
11-4
0
dilution
f
A-B-O
Le
H
1:4
and
Saliva
of
Leb
In
Substances
5aliva
Le’
Le’+’
Lea+b
Le’+’
Leb+
Le”+’
B
-
-
-
-
-
-
+
+
Lea+b
-
-
Lea+b-
-
-
+
+
Leab+
Let+
+0
+
+
Leb
1:50
1:50
+
-
-
-
+
+
+
+
+
+
+
±
+
-
-F
±
-
-
-F
+
-
-
-
+
+
-
-
-
-
-
-
+
-
-
-
-
+
+
-
-F
-F
+
-
+
+
+
+
+
+
+
-
-
-
-
Le”+
Le”+’
Lea+I
Le+b
Leb
Le
Leab+
-
Lea+l
Le’+
Leb
Lea+b
LeL+)
Lea+b
Le+b
Leap)
Le’+
_
-
-1-
-
-
-
-
-I-
-F
-
+
-I-
Le+b
Le”+
Leb+
Ja-b-
Lea+
Le”
Leab
Le’
Le’
Le’
Le’+
Le’+
-
Lea+)
Le+b
Le’+’
complete
neutralization
+
+
-
-
of .05 ml
+
+
of Lea
or Leb
antisera
-
-F--
+
-
at the
indicated
of saliva.
and
Lewis
phenotypes
the
Bombay
phenotype
europeus
lectin,
or anti-A
antibodies.
H
Lewis
A
1-2
1-3
1-4
1-6
1-8
11-1
11-2
11-3
A,B,
From
the
data
determined
failed
to
or anti-B
presented
from
react
serum.
in
with
Their
these
the
serum
human
sera
tables,
only.
anti-H
contained
no
genetic
serum,
Ulex
A, B, and H
association
BOMBAY
127
PINOTYPE
Table
2.-Red
Cell
If
Blood
Pi
1-2
Factors
M
S
N
-
‘-4
1-6
+
+++
+
+++
1-8
+
+-+
11-1
11-2
11-3
11-4
11-5
+
-+-+++
-
+-+±±+
1-3
4-+
+
±
±
+
+
11-6
11-7
11-8
11-9
11-11
11-12
11-13
11-14
11-15
11-16
Other
s
than
Those
rh’
Rh0
rh”
+
+
+
--+
+
±
++
+
of the
A-B-O
hr’
hr”
and
Fya
+
-
----+
-
-
±
-F-
±
--+
+
-
+
-
++
----+
++-
-
-
--+
+--
-
-
--+
+--
++-++±
+
+--
-
+
++-+--
--+
+
+
+
±
-
+
-
--+
+--+±
--+
+--++
+--+-
+
+
+
11-18
11-19
11-20
11-21
+
+++
+++
++
++
+
+
11-22
+
++±
+
11-23
+
+
+-±
+
+
-
-
--+
+
+
111-2
++
++
+
+
+
±
-F±
111-3
111-4
111-5
111-6
111-7
111-8
111-9
111-10
Ill-li
+
+
family
secretor
are
between
tree diagrams
systems.
The
the
++
±+--
++
+±
++
of
propositus
( 11-7)
quite
and
different
H locus
present
portion
siblings
of the propositus
mother,
her siblings,
individuals
propositus
++--
4-
demonstrated
loci.
(the
++
±±
4-
and the
propositus’
++--
+±+--
-F-
The
±±
+
±
+
be
±+
+++--
±±±--
++
++
-
Duffy
+++--
+
+-
±
111-12
they
+
++
+±
++
+
+
±
-F
++
Two
-
±--
+-+
five
+
+
+
-
--+
+
and
Jk
-
++-
+
k
-
±
±
+
----±
++
+-+
-
K
+±---+±
11-17
can
Fyb
Systems
±+-++
+
+
+
11-24
111-1
Lewis
the
MNSs,
P, Rh,
only
of the
the data
of the A-B-O,
family
tree representing
is presented
and their
in Figure
1. The
children
is presented
Bombay
type
and
siblings
four
and
were
)
identified
in
in the
second
his twin brother
( 11-8)
in physical
appearance
have
and
the
first
Kell,
H-h,
the
are
probably
generation
Although
blood
or
Lewis,
mother
portion
for
in Figure
generation.
identical
Kidd,
groupings,
nonidentical
the
2.
and
the
128
YUNIS,
SVARDAL,
BRIDGES
B
‘9
‘.2
-
*
00
-
#{149}
00
S.9
0.0,
08
0
*
$.
Oh
8.j
8.L
1,9
1,,,
*
I,’
Fig.
1.-Family
tree representing
the propositus
and his parents
and siblings
with
their
children.
Only
the
ABO,
H, Lewis
and
secretor
systems
are
given
in the
diagram.
In the genotypes
given
for each
individual,
those
characters
that have
been
inferred
from the other
data are underlined,
while
those
characters
directly
deter-
mined
are
zygotes
individuals
not
are
underlined.
indicated
were
not
The
by solid
available
propositus
figures,
(NA)
is indicated
twins.
The father
of the propositus
was
bay locus
since
five of his ten children
The
show
by
A-B-O
types
of the children
that
the B gene
was present
phenotypes
monly
in
referred
that
H
glycosyl
in the
product
Bombay
individuals
to as suppression
substance
transferases.’3
is
required
Similarly,
by
others
presumably
are of the
of the
Levine.4
for
the
the
In
the
of
family
the
of
two
Levine
parents
et
had
subsequent
A-B-H
secretor
al.4
the
linkage
a common
of
action
status
is not
group
origin
the
Two
(f).
Bom-
Bombay
genotype
the A1 and
A2
described.1’
of expression
absence
of the H gene
and Le
substance
of action
of both the Lewis
and H genes.14
genes
homo-
individuals
( 11-2 and 11-13)
but effectively
suppressed
B gene
by
Suppression
has also been
is actually
a lack
Bombay
half-filled
figures.
were
deceased
heterozygous
at the
Bombay
phenotype.
of two Bombay
in the parent
the Bombay
genotype.
Suppression
been
previously
described
by
has
by an arrow.
while
heterozygotes
for study
and two
( first
What
if one
of the
is not
produced
A and
expressed
B
as it is the
associated
cousin
is comassumes
with
Iz
the
)
marriage
and
may
be presumed
identical.
Thus
Levine’s
family
provides
evidence
against
linkage
of the
A-B-O
and
H systems
since
one
child
of the
propositus
would
have
to have
a B, h linkage
group
and the other
child
0, h linkage.
In
the present
study,
the mother
of the propositus
had
two Bombay
genes,
of
which
only one could
have
the associated
linkage
group
common
to that of the
father.
linkage
These
sibships,
of the A-B-O
Evidence
from
this
phenotype
at
the
then,
cannot
and H systems.
for or against
linkage
of the
pedigree.
However,
children
(1-2,11-2,11-8)
Lewis
be
locus.
This
show
has
that
not
the
been
used
as evidence
either
for
Lewis
and H loci cannot
of three
of the parents
parents
must
determinable
have
been
or
against
be obtained
of Bombay
heterozygous
in previously
reported
BOMBAY
129
PHENOTYPE
U
B._.
B._.
H
H,h
I,
-
a
H,
h
H,h
-
-.-
H,...
H,_
H,...
S.,S.
ae,se
S.,sp
S..
1....
Fig. 2.-Family
their children.
The
cases.
Thus,
genes
which
are
of Bombay
kinds
have
subsequently
sera
of
the
individuals
been
at
for
the
for
he
the
gene
X
a rare
21
the
( i.e.,
xx
A and
H,
is the
X-x
)
proposed
which
of homologous
knowledge
of
speculated
that
gene
product
is the
level.20
x was
were
theory
evolution.
hypothesis
transferases
The
H and
is reasonable
13
and
of
each
has
are
fucose
an
of
allele
by
a
suggested
Levine
precursor
group
of the
represents
and
that
of H, i.e.,
blood
that
the
hh.
Bombay
Homozy-
who
showed
the A-B-O
locus.
individuals
lack
the
concept
substance
that
for
H substance
Bombay
phenotype
is presented
here.
to be the result
of inheritance
of two
of the H gene
caused
by the mechover.
Up
and
Lewis
exist.
of the
both
h,l
two
Bombay-type
of these
were
3
from
might
loci
since
is not
genotype
the
and/or
of the Bombay
results
from
xx
and
questions
and
Watkins
for
excess
number
which
the
independent
that
Bombay
crossing
the H
duplication
Lewis
x gene
siblings
h,L
the
genetics
phenotype
postulated
the
This theory
B substances.13
her
by
a,
L,_
certain
rare
Lewis
antiof some
intermediate
the A-B-O
system
for the rare allele
gene
association
of
react
with
the
presence
Watkins
genes
the
but unequal
association
some
possessing
that
A third
possible
explanation
for the
The
Bombay
phenotype
is postulated
chromosome
regions
containing
deletions
anism
is no
to
a rare
determines
B antigens.
for A and
precursor
L,...
three
Lewis-negative
erythrocytes
of two
postulated
pre-H
suppressor
hypothetical
recently
family
Only
The
the
H gene
was
independent
of
phenotype
was due to homozygosity
that
I,-
been
proposed
to explain
the
anticipated
that
the Bombay
2
Subsequently,
block
gosity
-
scheme
postulated
may
be a significant
Lodge
et al.16
as to suggest
of homozygosity
locus.
metabolic
the
There
reported.9’15’16
theories
have
Ceppellini
occurrence
L,
in this
with
individuals.
shown
by
specificity
such
substance.
Several
phenotype.
ABO
are
consistent
genotypes.13
Bombay
individuals
1,1
tree representing
the mother
of the propositus,
abbreviations
used are the same as in Figure
1.
there
Lewis-positive
1.
H,_
S.,
We
H gene
assumed
H and
as a first
to be
to the
loci,
present
although
postulate
that
with
subsequent
linked
and
gene
products’
substrate
and the
Lewis
time
there
4
the
Lewis
divergent
adjacent.
This
are glycosyl
same
oligosac-
130
YUNIS,
doss
oval
POSITION
dOSS
La
N
Paoauc,s
H
xN
H
9,
9.
S
__
#{231}4
b
-)
N
0
OVIa
BRIDGES
‘JH-3+’-
a
_
i
SVARDAL,
N
9.
‘
z
NX
H
-IIH----’3-4---
L
-4------f
__
±-1----f-
.
:
---o------
)
XL.
H-
9.
t->-4-
I
0
.
N
1.
#{231},4,
S
N
La
4__
)
LeX
-4------
La
-f----o-1-----±-N
C
L.X
1
1
Fig. 3.-Diagramatic
unequal
crossing-over
chromosome
and one
over
(X)
Lewis
activity
determines
whether
there
loci. If the crossover
of that locus in both
charide
as
change
the
second
in the
by one
fucose
substitution
possible
equal
substrate.
such
but
unequal
shown
over
position
in
diagrams
products
of
dosage,
tion
the
cross
of the
H gene
of methods
the
of
would
ent
the
of the
absence
only
over
might
and
Ia,
require
relative
In
products
are
are essentially
or heterozygous
of a Lewis-positive
with
precise
effects
If
the
3 the
are
dia-
possible
un-
determined
determining
by
the
ac-
same
whether
they
individual.
The
prochromosome
with
a
a duplication
to demonstrate
of the
differences
H gene.
In
in gene
of such
an event
would
be the producthe cross
over occurs
on the other
side
of the Lewis
gene
will
occur.
maintaining
the Lewis-negative
or severely
explain
the
Figure
three
as
area
or
the
and
configuration
their
chromosomes
that
H
the enzyme
bound
as one amino
acid
change.
there
of the
destroy
-<----
a small
of
little
and
Ic,
to
a chromosome
chromosome.
destroyed
would
and
complete
sufficiently
site ( lb ), a deletion
as a mechanism
for
might
be
an event
a deletion
also
only
overs
Ib,
population
groups.
If the cross
over
active
site,
(Ic and
lie),
both
H
enzymes
for such
or
the position
residue.
As
cross
The
results
homozygous
production
demonstrable
a Bombay-type
active
serve
a duplication
a configurational
between
tive
site of the enzyme.
occur
in a Lewis-positive
ducts
of Ia result
in the
the
It
produce
As
deletion
be
H specific
enzyme
to shift
residue
to the penultimate
could
cross
will
occurs
in a critical
position
it may
daughter
chromosomes
(denoted
by
homologous
grammed.
the
representation
of the possible
products
of homologous
but
between
“normal”
chromosomes
(I) and between
a normal
with a deletion
of the H locus (II). The position
of the cross-
should
occur
and
Lewis
altered.
rarity
of
The
the
in the
activity
Such
an
trait
in differ-
event
area
determining
of the resulting
restricted
Lewis-negative
area
required
Bombay
BOMBAY
phenotype.
The
of the
Hh
possible
The
over
( lie)
site
positive
products
of homologous
heterozygote
cross
active
would
and
a Lewis-negative
of the
linkage
intact
may
be
bay
linkage
gene
suggested,
unequal
in the
from
case
all
three
products
of a cross over at the
production
of both
a Lewis-
.
chromosome.
then
must
be
with
one
“Bombay
the
other
which
has
carried
the
more
probably
over
chromosome
lib, lie ) The
in the simultaneous
Bombay-type
and
crossing
a Bombay
( ha,
propositus
types,
Lewis
but
produce
positions
might
result
mother
bay-Lewis
an
131
PHENOTYI’E
heterozygous
gene”
for
which
has
a defective
the
Bornto
The
father,
one.
common
two
linked
itself
Lewis-positive
it
Bom-
type.
SUMMARY
Seven
individuals
thirty-three
the
first
report
Bombay
locus.
with
members
of
children
hh
phenotype
This
family
phenotype
were
shown
by
the
of an
Bombay
Indian
resulting
and
again
an
from
been
of
reported
Bombay
union
provide
the genetic
In order
to explain
by
the
proposed
by crossing
over
at the
enzymes
which
determine
for the
rarity
mechanism,
position
the
we
determining
Lewis
and
SUMMARIO
IN
at
with
that
that
Bombay
A-B-O
of this
not been
family
deter-
the concept
the Lewis
duplication
Deletions
the active
site
the H specificities.
the
the
that
gene
predisposes
in this system
Lewis-negative
and
of the
Lewis-negative
postulate
is
of
the
of
individuals
This had
the
This
individual
Hh
the H gene.
Such
and to deletion.
basis
the
an
suppression
is consistent
We propose
among
generations.
of
effective
cases.
This
genotypes.
found
three
heterozygous
the
has evolved
from
a duplication
of
to both
higher
orders
of duplication
phenotype
the
individual
demonstrates
have
spanning
the Bombay
genotype.
Three
Bombay
to be heterozygous
at the Lewis
locus.
minable
in previously
there
are two kinds
would
then
phenotype.
phenotype
family
the
it would
of the
Bombay
Bombay
only
arise
transferase
INTERLINGUA
Septe
individuos
COfl
IC phenotypo
Bombay
esseva
trovate
inter le trenta-tres
membros
de un familia
indian
incluse
representantes
de tres generationes.
Isto es le prime
reporto
de prole resultante
ab le union
de un individuo
del phenotypo
hh Bombay
con un individuo
heterozygotic
Hh al loco Bombay.
Iste familia
demonstra
de novo Ic eflicace
suppression
del phenotypo
ABO per le genotypo
Bombay.
Esseva
monstrate
que tres individuos
Bombay
de iste familia
esseva
heterozygotic
al loco Lewis.
Isto non esseva
determinabile
in previemente
reportate
casos.
Le facto es congrue
con le conception
que duo generes
de genotypo
Bombay
existe.
Nos postula
que le gen Lewis
ha evolvite
ab tin duplication
del gen H. Un
tal duplication
predispone
tanto
a plus
alte
ordines
de duplication
como
a deletion.
Deletiones
in
Bombay,
Pro
mechanismo,
determinante
iste
systema
providerea
le
base
genetic
pro
Ic
phenotype
Lewis-negative
explicar
le raritate
del phenotype
Bombay
Lewis-negative
per
nos postula
que illo occurre
solmente
per un transcruciamento
le sito active
del transferase
que determina
le specificitates
Lewis
e
le proponite
al position
e H.
ACKNOWLEDGMENT
The authors
wish to thank
Mrs. Helen
Jane
Swanson,
Minneapolis
War
Memorial
antisera
of Lea and Leli specificities.
Also,
assistance
in the collection
of specimens.
Hallgren
Blood
to Doctors
for her technical
assistance
and
Bank,
for her generous
provision
Prasanta
and Sukanta
Dutta
for
Mrs.
of
their
132
SVARDAL,
YUNIS,
BRIDGES
REFERENCES
1. Bhende,
Y. M., Deshpande,
C. K.,
Bhatia,
H. M., Sanger,
R., Race,
R. R.,
Morgan,
W. T. J., and Watkins,
W. M.: A
new
blood
group
character
related
to the
ABO
system.
Lancet
1:903,
1952.
2. Ceppellini,
R., Nasso,
S., and Tecilazich, F. : La Malattia
Emolitica
del Neonato.
Instituto
Sieroterapico
Milano:
Belfanti
Milanese
204,
M.,
1952.
Morgan,
Serafino
J.:
Some observations
on the 0 and H characters of human
blood
and
secretions.
Vox
3. Watldns,
W.
W.
T.
Sang.
5:1,
1955.
4. Levine,
P., Robinson,
E., Celano,
M.,
Briggs,
0., and Falkinburg,
L. : Gene interaction
resulting
in suppression
of blood
group
substance
B. Blood
10: 1100, 1955.
5. Bhatia,
H. M., Sanghvi,
L. D., Bhide,
Y. G., and Jhala,
H. I.: Anti-H
in two siblings
in an Indian
family.
J. Indian
Med.
Ass. 25:545,
1955.
6. Hakim,
S. A., Vyas,
C. N., Sanghvi,
L. D., and Bhatia,
H. M. : Eleven
cases of
Bombay
phenotype
in six families:
suppression
of ABO
antigen
demonstrated
in two
families.
Transfusion
7. Bhatia,
Rare
bay
blood
H.
groups
phenotype.
8. Bond,
W.
M.,
and
Vox
M.,
1 :218,
1961.
and
Sanghvi,
consanguinity:
Sang.
7:245,
Shirgaonkar,
L.
D.:
Born1962.
N. V.,
Randeria,
K. J., and Bhatia,
H. M. : Unpublished
case,
1965.
9. Bhatia, H. M.: Serology and genetics
of the variants
of the H antigen.
Indian
J.
Med. Res. 54:345,
1966.
10. Parkin,
D. M.: Study
of a family with
unusual
ABO phenotypes.
Brit. J. Haemat.
2:106,
1956.
11. Aloysia,
M., Celb,
A. C., Fudenberg,
H., Hamper,
J., Tippett,
P., and Race,
R.
R.: The expected
Bombay
group
Oh A1 and
Oh A2. Transfusion
1:212,
1961.
12. Pettenkofer,
von H. J., Luboldt,
W.,
Lawonn,
tische
H.,
and
geneABO
an einer
fainilie
bei der die
nicht
das blutgruppen
merkZ. J,mmun.
Forsch.
120:288,
suppression
Niebuhr,
der
Untersuchungen
unterdruckung
R. : Uber
blutgruppen
B betrifft.
1960.
13. Watkins,
W. M.: Blood
stances.
Science
152:172,
1966.
14. Man,
A. M. S., Donald,
Watkins,
W. M. and
Morgan,
ma!
Molecular
and
blood-group
1345,
1967.
15. Ciles,
buddin,
A.
Blood.
Vox
16. Lodge,
Gold,
E. R.
acting
with
and Oh Le
gen
present
10:73,
17.
genetic
Leb
group
aspects
specificity.
sub-
A.
W.
S.
T.
of
human
Nature
R.,
J.:
215:
C., Mourant,
A. E., and AtaH. : A Lewis-negative
Bombay
Sang.
8:269,
1963.
T. W.,
Andresen,
J., and
: Observations
on antibodies
readult
and cord Le (a-b-)
cells,
( a-b-)
cells and a soluble
antiin certain
salivas.
Vox Sang.
1965.
Smithies,
0. :
Chromosomal
rear-
rangements
of
protein
structure.
Cold
Spring
Harbor
Symposia
on Quantitative
Biology
29:309,
1964.
18. Technical
Procedures
and
Methods
of the American
Association
of Blood
Banks
(ed. 4). Chicago,
American
Association
of
Blood Banks,
1966.
19. Wiener,
A. S. : Lewis
Blood
Types:
Theoretical
implications
and
practical
applications.
Amer.
1965.
20. Ceppellini,
of human
blood
Human
Genetics.
posium.
Boston,
pany.
J.
Clin.
Path.
43:388,
R.: Physiological
genetics
factors.
In Biochemistry
of
Ciba
Foundation
SymLittle,
Brown
and
Com-
1959.
21. Wiener,
A.
S.,
Moor-Jankowski,
J.,
and Gordon,
E. B.: The relationship
of the
H substance
to the A-B-O
blood groups.
mt.
Arch.
Allergy
29:82,
1966.