Extension of Mendelian Principle
1- Interaction between alleles of same locus
(Intra locular interaction).
2. Interaction between alleles of different locus
(Inter locular interaction).
Interaction between alleles of same locus :Dominance
(a) Complete Dominance
Ex- Cattle (Horn) ( 1) P- Polled , p –horn
(2) Coat colour B-black , b- red
Incomplete Dominance
• Partial / semi-dominance/ Incomplete
A2A2 A1A2 A1A1
0 1 1.5 2
Co-dominance
• CR-red , C W-white and C R W- Roan
M-N blood group system in human being
LM L M
LM L N - Antigen M & N
LNLN
Over dominance-
Human Haptoglobins
H 1 H 1- Haptoglobin 1
H 2 H 2- Haptoglobin 2
H 1 H 2- Haptoglobin 1,2,3
• Sickle cell anemia-
Hb A Hb A
Hb A Hb B
Hb B Hb B- Anemia
LETHALS
• Genes which affect the viability as well as the visible traits of an
organism are called lethal genes and the phenomenon is called
lethality.
• Lethal genes can be recessive , dominant , conditional, semilethal /
sublethal, or synthetic, depending on the gene or genes involved.
• If the lethal effect is dominant and immediate in expression, all
individuals carrying the gene will die and the gene will be lost.
• Dominant lethal genes are expressed in both homozygotes and
heterozygotes. All individuals carrying the genes will die and the
genes will be lost in populations.
• Recessive lethal allele carried in the heterozygous condition has no
effect but they cause death when an organism carries two copies of
the lethal allele.
• Recessive lethal may come to expression when mating between
carriers occurs.
Creeper lethal gene in chicken
Lethal genes in Drosophila
Gene for Vestigial wings and gene for white eyes
certain recessive lethal genes like curly wings(Cy), plum
eyes(Pm) and stubbles(Sb) influence the viability of the flies in
homozygous condition.
Lethal genes in man
1. Congenital ichthyosis-(recessive lethal)
2. Amaurotic idiocy- (recessive lethal)
3. Cooley’s anemia- Hb1 A Hb1 s (Heterozygous)
Hb1 A Hb1 A
Penetrance & Expressivity
• The ability of gene or gene combination to be expressed
phenotypic ally to any degree
1. Complete Penetrance
2. Incomplete Penetrance
Example of Complete Penetrance-
In pea the alleles(RR) for red flowers and the alleles(rr) for
white flowers.
In Drosophila the recessive alleles for vestigial wings in
homozygous.
In guinea pigs the dominant alleles ‘B’ for black coat .
Examples of Incomplete Penetrance
• Polydactyly in man produced by a dominant
gene P.
• In man, the tendency to develop diabetes
mellitus
Effects of Environment on Penetrance -
Expressivity
Expressivity- A trait through penetrant, may be quite variable in
its phenotypic expressions.
The degree of effect produced by a penetrant genotype is called
expressivity
Example-
In man the polydactylous condition
Effect of Environment on expressivity-
Pleiotropism
• A single gene often influences more than one phenotypic
trait.
1. In drosophila the recessive gene for vestigial wings
2. In human , the gene for disease phenylketonuria.
MULTIPLE ALLELE
• In all diploid organisms, in each somatic cell there are two homologous
chromosomes.
• Each one of these homologous chromosomes carries one allele of a gene
at a particular locus. So there are two alleles in a locus of each cell of an
individual.
• When more than two alternative alleles are present for a gene, they are
called multiple alleles.
• In these cases two or more different mutations must have taken place at
the same locus but in different individuals or at different times.
A capital letter symbol is used to designate allele which is dominant to
all other alleles for that specific gene.
Corresponding small letter is used to designate allele which is recessive to
all other alleles for that specific gene.
Other intermediate alleles are designated with same letter with some
suitable subscript based on their degree of dominance between the two
extreme alleles.
COAT COLOUR IN RABBITS
• The most famous example of multiple alleles was discovered
in the coat colour of rabbits.
• The rabbits may have the following colour.
1. Full colour/Agouti (brownish grey)
2. Chinchilla (silvery grey)
3. Himalayan – white with black extremities
4. Albino - complete white
• In addition to the four alleles discussed above, two more
alleles have been found to affect the degree of expression of
the chinchilla pattern. The six alleles n order of dominance
from left to right are C > cd > cch > cl > ch > c (alleles cd - dark
chinchilla and cl light chinchilla)
• As the number of genes in a series of multiple alleles
increases the number of genotypes possible increases rapidly.
The number of genotypes possible in a diploid organism with
'n' different alleles is given by the formula [n(n+1)]/2.
Alleles in series Genotype
2 3
3 6
4 10
5 15
n N(n+1)/2
NATURE OF WING IN DROSOPHILA
• In the wild strain of Drosophila, the wings are normally long
(vg+). The two mutant alleles in this locus are vg v (vestigial)
and vg a (antlered).
• The mutant alleles are recessive to the normal gene.
• But when the vestigial wing and antlered flies are crossed the
F1 hybrids are intermediate in appearance and this phenotype
is often called vestigial antlered.
• This suggest that vg v and vg a are neither dominant nor
recessive to each other but only intermediate in effect.
In addition to these alleles the vestigial locus carries other
mutants such as strap (vg st), nicked (vg ni) and notched (vg no)
etc.
EYE COLOUR IN DROSOPHILA
• Wild type Drosophila have red eyes; but a vast variety of eye-colour
mutants have been studied extensively.
• More than a dozen mutant alleles of one gene (white, symbolized w)
results in flies with eye colour ranging from pure white through a
series of intermediate colours up to nearly the wild-type red when
present in the homozygous condition.
• The recessive mutant white was discovered by T.H. Morgan and C.
Bridges in 1912.
• The other mutants alleles of this gene are wa (white apricot), we
(white eosin), wch (white cherry), wco (white coral), wcol (white
coloured), w w (white wine), w bl (white blood), wcrr (white carrot) w c f
(white coffee) etc., Generally a cross between any two mutants results
in the appearance of intermediate phenotype in the F1 progeny.
• The genotype appearing as wild type are w + S / w + S - Stellen bush
strain, w + C/w + C - Canton S strain and w + G/w + G - Graff-Reinet strain.
• The various wild type genotypes that appear as red can be
quantitatively seperated.
• Such types of alleles, which act within the phenotypic range
of each other, are called isoalleles.
• Many such isoalleles have been discovered at a later period.
ABO BLOOD GROUP SYSTEM IN HUMAN
• The first case of multiple alleles demonstrated in man was the ABO
blood group system by Karl Landsteiner( University of Vienna ) in
1900.
• In 1930, he belatedly received the Nobel Prize for this discovery.
• The ABO locus has three common alleles of a single gene I A, I B, I O
(located on chromosome 9) forming four different phenotypes viz
• I A and I B ,are co-dominant and IO is recessive to both IA and IB
• The ABO locus controls the type of glycolipids found on the surface
of erythrocytes, apparently by specifying the glycosyl-transferases
(enzymes catalysing the synthesis of polysaccharides) synthesized in
the red blood cells.
Phenotype Genotype Antigen
A I A I A, I A I O A
B I B I B, I B I O B
AB IAI B AB
O IOIO Neither
• The specific types of glycolipids on the red blood cell surface
in turn provide the antigenic determinants that react with
specific antibodies in blood serum.
• The cell surface antigens and the serum antibodies present in
the four ABO blood types are summarised as follows
• The AB blood group individuals can receive blood from all
the group and hence they are called Universal recipients.
• O individuals can donate blood to all the groups and hence
they are called Universal donors.
• The A and B antigens are found not only on red blood cells
but often in the body fluids as well.
• Individuals who possess such antigens are called Secretors
and can be shown to be either homozygous (SeSe) or
heterozygous (Sese) for the dominant allele.
• The secretors are controlled by a different pair other than
ABO blood group genes.
Rh - FACTOR ALLELES IN HUMANS
• The Rh-factor was discovered by K Landsteiner in 1940 along with A.S.
Weiner.
• They immunized rabbits with blood of a monkey (Macaca rhesus).
• The rabbits developed antibodies that could agglutinate not only rhesus
blood, but also the blood of human beings.
• The antigens of both monkeys and humans were called Rhesus (Rh-
antigen).
• Individuals carrying the Rh-antigens are called Rh-positives and those who
do not carry Rh-antigen are called Rh-negatives.
• Most people - about 85% - are Rh-positive.
• But if a woman who is Rh-negative and a man who is Rh-positive
conceive a baby, there is the potential for a baby to have a health
problem.
• The baby growing inside the Rh-negative mother may have
Rh-positive blood, inherited from the father.
• Rh-incompatibility usually isn't a problem if it's the mother's
first pregnancy because, unless there's some sort of
abnormality, the fetus 's blood does not normally enter the
mother's circulatory system during the course of the
pregnancy. However, during delivery, the mother's and baby's
blood can intermingle.
• If this happens, the mother's body recognizes the Rh-protein
as a foreign substance and can begin producing antibodies
(protein molecules in the immune system that recognize, and
later work to destroy, foreign substances) against the Rh-
proteins introduced into her blood.
• Rh antibodies are harmless until the mother's second
or later pregnancies.
• If she is ever carrying another Rh-positive child, her
Rh-antibodies will recognize the Rh-proteins on the
surface of the baby's blood cells as foreign, and pass
into the baby's bloodstream and attack those cells.
• This can lead to haemolysis of the normal blood cells.
• A baby's blood count can get dangerously low when
this condition, known as haemolytic disease of the
newborn, “Erythroblastosis foetalis” occurs.
