Prepared by-:

Athira Bahulayan
Ist MSc Biotech
SAS College, Konni
 Detected by Johannsen in 1909.
 Alternative forms of a gene.
 Occupies identical loci on homologous
chromosomes
 Control contrasting forms of same character.
 Two allelic forms are there -:
Dominant
Recessive
 Allelism - existence of a gene in two or more
alternative forms at a specific chromosomal locus
MULTIPLE ALLELES (Morgan 1914)
 Gene having more than two alleles.
 Occupy the same locus on homologous chromosomes
and govern the alternative forms of the trait.
 Multiple allelism - Condition existing in more than two
allelic forms
 Diploid organism - only two alleles of a multiple allelic group
is found.
 Haploid cells - only one allele of each set.
 No crossing over between the members of a multiple allelic
set because they occupy the same locus and crossing over
always involves recombination.
 Multiple alleles always control a particular trait.
 The wild type allele is always dominant over the mutant
alleles.
 The mutant alleles may show complete or partial or co
dominance among themselves.
 Multiple alleles act to control the different steps of a
metabolic pathway.
 The F₂ generation of crosses -multiple alleles -3:1
monohybrid ratio.
EXAMPLES OF MULTIPLE ALLELES
 Cuenot (1904) detected the multiple alleles during the
studies on coat color in mice
 Eg -: Self sterility in Nicotiana.
- Coat color in mice
- Eye color and wing length in Drosophila.
- Hemoglobin and ABO blood groups in human.
- Self incompatibility in plants, etc.
 Karl Landsteiner (1900) - antigens & their antibodies.
 Antigens termed as A & B.
 Antibodies as a & b.
 Antigens occur in the plasma membrane of RBCs &
antibodies in the blood plasma.
 Landsteiner - a particular type of blood may contain
either one or both or none of the antigens or antibodies.
 Acc. to that four blood groups of human blood called A, B,
AB & O.
 A group blood contains antigen A & antibody b (Ab).
 B group has antigen B & antibody a (Ba).
 AB group has antigens A & B, but no antibodies (AB)
 O group has antibodies a & b, but no antigens (ab).
 Bernstein (1924)- ABO locus governs the production of
antigens A & B.
 It has an antigenic autosomal gene, termed I.
 This gene has 3 alleles I , I & I
 The alleles I & I are dominant to I .
 I & I are co dominant to each other.
 The alleles I & I controls -production of antigen A and B
resp. But the recessive allele I controls no antigen.
 A & B group people are either homozygous or heterozygous
for allele I (I I or I I ) & I (I I or I I ) resp.
 AB group people -heterozygous with alleles I & I (I I ).
 ABO antigens - inherited in the Mendelian fashions in the
case of A,B & O.
 The blood groups of the offspring can be determined.
 Eg -: If both the parents have O group blood then their
children will have O grp.
 The blood grp of the children born to parents - A & B,
dependent upon the genotypes of the parents
 For Eg-: Children born to A & O parents -A group.
 But for I I × I I parents A and O group in the ratio 1:1.
 For I I × I I parents A, B, AB & O group in equal
proportion.
 Phenotypes & Genotypes of the ABO blood group system
Blood group Antigen Antibody Controlling Genotype
phenotype presents presents allele
A A b IA I AI A × I AI O
B B a IB IBIB × IBIO
AB A&B Nil IA & IB IA IB
O Nil a&b Io IO

The inheritance of ABO blood group system

Serial Parents Parents Offspring’s Offspring’s genotype
No. phenotype genotype blood group

1. A×A IA IA × IA IA A I AI A
2. A×A IA IA × IA IO A I AI A , I AI O
3. A×A IA IO × IA IO A &O I AI A , I AI O , I OI O
4. A×B IA IA × IB IB AB I AI B
5. A×B IA IO × IB IB B & AB IBIO , IAIB
6. A×B IA IO × IB IO A, B, AB & O IAIO, IBIO,IAIB,IOIO
Serial Parents Parents genotype Offspring’s Offspring’s genotype
No. phenotype blood group
7. A × AB I AI A × I AI B A & AB IAIA, IAIB
8. A × AB I AI O × I AI B A ,B & AB I I , I I ,
I I ,I I
9. A×O I AI A × I OI O A I I
10. A×O IAIO × IOIO A&O I I , I I
11. B × AB IBIB × IAIB B & AB I I , I I
12. B × AB IBIO × IAIB A ,B & AB I I , I I ,
I I ,I I
13. B×O IBIB × IOIO B I I
14. B×O IBIO × IOIO B&O I I , I I
15. AB × AB I AI B × I AI B
A ,B & AB I I , I I ,
NON ALLELIC INTERACTIONS IN THE EXPRESSION OF ABOI BLOOD
I GROUP
16. O × O results from
 ABO system I I ABO
× I locus-
I O locus & precursor
secretor I I locus.
The “secretor gene” of the secretor locus interacts with the antigenic
alleles of the ABO locus to govern the synthesis of antigen A & B.
The secretor gene has dominant (Se) and recessive (se) alleles.
Sufficient synthesis of antigens A & B in dominant states (SeSe or Sese).
 In homozygous recessive state (se se), sufficient amounts of
antigens A & B will not be produced.
 In O group persons, no antigens are produced, because
antigenic gene is present in the double recessive (I I ) state.
 The precursor locus interaction with ABO locus control
production of the precursor substance of antigens A & B.
 The dominant alleles governs , synthesis of the precursor
substance.
 In A group persons, precursor substance is converted to
antigen A, under the influence of the secretor allele Se and
the antigenic allele I .
 In B group persons, it is converted to antigen B, under the
influence of Se & I .
 In O group persons, the antigenic gene exists in the double
recessive (I I ) state. So, the precursor substance would not
be converted to an antigen.
 The precursor gene exists in the double dominant state
(HH), in a few persons in the heterozygous state(Hh) & in
rare instances in the double recessive state (hh).
 In the first & second instances, the synthesis of the
precursors substance & its conversion to antigen A & B
would occur, provided the other related genes (I or I &
Se) are in the dominant state.
 But, in the third instance (hh), neither the precursor
substance nor any antigen would be produced, even if the
other related genes are in the dominant state. Such persons
would be phenotypically O, though they are genotypically A
or B or AB. This is very rare condition is called Bombay
phenomenon. This is a typical case of recessive epistasis.
 Considering the interaction between the alleles from 3
principle loci, the genotypes of the ABO blood groups
system can be symbolically represented as-:
 A Group B Group AB Group O Group
I I SeSe HH I I SeSe HH I I SeSe HH I I SeSe HH
I I SeSe Hh I I SeSe Hh I I SeSe Hh I I SeSe Hh
I I Sese HH I I Sese HH I I Sese HH I I Sese HH
I I Sese Hh I I Sese Hh I I Sese Hh I I Sese Hh
I I SeSe HH I I SeSe HH
I I SeSe Hh I I SeSe Hh
I I Sese HH I I Sese HH
I I Sese Hh I I Sese Hh

ABO BLOOD GROUP SYSTEM & BLOOD TRANSFUSION

 Blood transfusion - transfer of one person’s blood to another’s

body.
 The person who donates blood - donor, & the person who
receives blood -recipient.
 Transfusion can’t be done from any donor to any recipient,
because the blood of different individuals can be chemically
different, and when mixed together, may sometimes interact.
 Interacting types of blood - incompatible or mismatching.
 Transfusion of incompatible blood causes death of recipient,
because of the clumping or agglutination.
 Agglutination - antigen-antibody reaction.
 Antigen – agglutinogen, present in red corpuscles
 antibody – agglutinin, present in blood plasma.
 Agglutinins - naturally occurring antibodies - found in blood
(eg-: antibodies of ABO blood system).

Group Can be donated Can receive

A A & AB Groups A & O Groups
B B & AB Groups B & O Groups
AB AB Groups only All Groups
O All Groups O Groups
 Mismatching transfusion results in agglutination of donor’s
blood RBCs - antibody a of recipient reacts with antigen A of
donor.
 Similarly antibody b of the recipient reacts with antigen B of
the donor resulting in agglutination.
 The recipient’s red cells never agglutinate
 The possibilities of permissible blood transfusion are-:
i.) since A grp contain antigen A & antibody b, it can
receive A & O grps & can be donated to A & AB grps.
ii.) since B grp contain antigen B & antibody a, it can
receive B & O grps & can be donated to B & AB grps.
 AB grps contain antigens A & B & no antibodies, so it can
receive all grps thus called “universal recipient” & at the
same time can be donated to AB grp only.
 O grp contains antibodies a & b but no antigens, so it can
be donated to all grps thus called “universal donors” but
can receive only from O grp.
MATERNAL – FOETAL ABO INCOMPATIBILITY

 Maternal and foetal blood -incompatible with their

antigens & antibodies causing complications in the foetus.
In such cases, maternal antibodies diffuse to foetal blood &
react with corresponding foetal antigen.
 This antigen-antibody reaction causes heavy destruction of
foetal RBCs, resulting in anaemia & jaundice in the new
born baby. This is called haemolytic disorder of the new
born.
 Since it is not much serious, blood transfusion is usually not
required.
 E.g. - maternal blood - O type, with antibodies may diffuse
to the foetal body. There antibody b reacts with the foetal
antigen B causing destruction of foetal RBCs, resulting in
foetal anaemia & jaundice.
 Human Rh blood groups (1939) - first reported by Levine &
Stetson - their studies on the haemolytic rectn - occurred in
a woman after blood transfusion from her husband.
 In 1940, Landstein & Weiner - previously unknown antigen
in the RBCs of rhesus monkey (Macacus Rhesus) & named it
Rh antigen or Rh factor.
 85% - Europeans, 93% - Indians & 99.5% - Chinese.
 Person possessing the Rh antigen - (Rh⁺ve)
 The dominant allele (R) controls antigen production.
 Person who is homologous or heterozygous for the
dominant allele (RR or Rr) will be Rh+ve.
 A complex group of closely related antigens called Rh
system.
 Multiple Allele Theory of Weiner
 The Gene Complex Theory of Fisher & Race.
 Weiner says- the inheritance of Rh system is governed by a
single gene, which has eight or more alleles, each allele
specifying a particular type of antigen.
 Fisher & Race says – governed by a series of pseudo alleles
(closely linked & functionally related alleles) of three
different genes namely C, D & E.
 These genes remain very close to each other so that they
move, act & express themselves in a single block, as if they
are linked genes.
 Each gene is believed to have dominant & recessive alleles
(i.e. C & c, D & d, E & e).
 A person who is homozygous recessive for all the three
genes (cc, dd, ee) is Rh-ve.
 Rh antigen has no natural antibody. They are produced in
Rh-ve persons only when Rh+ve person’s blood introduced
into their body.
 Rh+ve blood sensitizes Rh-ve persons and induces them to
produce Rh antibodies.
 Rh+ve person can always receive Rh-ve blood, without any
complications. But an Rh-ve person can receive Rh+ve blood
with no risk only once.
 Anti- Rh antibody - formed - first transfusion.
 Second transfusion –fatal due to antigen antibody
interaction & agglutination.
MATERNAL –FOETAL Rh – INCOMPATIBILITY &
ERYTHROBLASTOSIS FOETALIS.
 Rh antigen - dangerous to offspring , born to Rh+ve father &
Rh-ve (rr) mother.
 Father homozygous (RR)- all children Rh+ve heterozygous
(Rr).
 If heterozygous (Rr)- 50% Rh+ve heterozygous (Rr)
- 50% Rh-ve homozygous (rr).
 Usually the first Rh+ve child will be without any Rh
complication.
 If seepage of blood occurs through placenta, the Rh+ve foetal
blood may enter the Rh-ve maternal blood.
 As a result, the mother gets sensitized & produces anti - Rh
antibodies.
 For subsequent Rh+ve babies these antibodies are harmful. On
reaching the developing foetus through placenta it cause violent
antigen – antibody interactions. This is called maternal foetal Rh
incompatibility.
 And leads to very serious haemolytic condition, known as
erythroblastosis foetalis.
 Characterized by -:
 i.) massive breakdown and destruction of foetal RBCs
ii.) severe haemolytic anaemia
iii.) jaundice
iv.) presence of large numbers of erythroblasts (immature
RBCs) in circulating blood.
 Results in still-birth, abortion, inborn deformities, etc.
 In rare cases, the first child may also be severely affected.
 Large - scale destruction of foetal RBCs causes heavy loss of
hemoglobin resulting in a “blue- baby”.
 The malady can be averted by the administration of anti- Rh
antibodies to Rh-ve women during first pregnancy or within 2
or 3 days after the first delivery.
 Anti - Rh antibodies prevent the formation of Rh antibodies in
their blood.