Principles of Inheritance and Variation

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WELCOME
PRINCIPLES OF
INHERITANCE AND
VARIATION
IMPORTANT TERMS
IMPORTANT TERMS
Gregor Mendel:
Father of Genetics
MENDEL’S
MENDEL’SHYBRIDIZATION
HYBRIDIZATIONEXPERIMENTS
EXPERIMENTS
Mendel selected 7 pairs of

true breeding garden pea
varieties (Pisum sativum).
MENDEL’S
EXPERIMENTS
STEPS IN MAKING A CROSS IN PEA
1. Selection of 2 pea plants with
contrasting characters.
2. Removal of anthers
(emasculation) of one plant to
avoid self pollination. This is
female parent.
3. Collection of pollen grains from
the other plant (male parent)
and transferred to female parent
(pollination).
4. Collection and germination of
seeds to produce offspring.
MENDEL’S
EXPERIMENTS
7 CHARACTERS SELECTED BY MENDEL
Characters Dominant Recessive
1. Stem height Tall Dwarf
2. Flower colour Violet White
3. Flower position Axial Terminal
4. Pod shape Inflated Constricted
5. Pod colour Green Yellow
6. Seed shape Round Wrinkled
7. Seed colour Yellow Green

MENDEL’S
EXPERIMENTS
INHERITANCE OF ONE GENE
Monohybrid cross
 A cross involving 2 plants
differing in one character pair.
 E.g. Mendel crossed tall and
dwarf pea plants to study the
inheritance of one gene.
MENDEL’S
EXPERIMENTS
MENDEL’S
EXPERIMENTS
Monohybrid phenotypic ratio

T t Tall: 3 Dwarf: 1
TT Tt 3:1
T
Tall Tall
Monohybrid genotypic ratio
Homozygous tall (TT): 1
Tt t Heterozygous tall (Tt): 2
t Tall Dwarf Homozygous dwarf (t): 1
1:2:1
MENDEL’S
EXPERIMENTS
 Mendel made similar

observations for the other pairs
of traits.
 Based on these, Mendel
proposed that something was
inherited from parent to
offspring. He called them as
‘factors’.
 Factors are now called as genes.
Do not use T for tall and d for dwarf because it is difficult to remember
whether T and d are alleles of the same gene/character or not.
MENDEL’S
EXPERIMENTS
The F1 (Tt) when self pollinated, produces gametes T & t in equal
proportion. During fertilization, pollen grains of T have 50% chance to
pollinate eggs of the T and t. Also, pollen grains of genotype t have a
50% chance to pollinate eggs of genotype T and t .
T t
T TT Tt
Tall Tall
Tt t
t Tall Dwarf
MENDEL’S
EXPERIMENTS
1/4th of the random fertilization leads to TT
1/2 (2/4) of the random fertilization leads to Tt
1/4th of the random fertilization leads to t.
i.e. ¼ TT, ½ Tt, ¼ t
Tt x Tt
Binomial expression = (ax + by)2 Tt
TT
Hence (½ T + ½ t)2
Tall Tall
= (½ T + ½ t) (½ T + ½ t)
Tt t
= ¼ TT + ¼ Tt + ¼ Tt + ¼ t dwarf
Tall
= ¼ TT + ½ Tt + ¼ t
MENDEL’S
EXPERIMENTS
 Mendel self-pollinated the F2 and

found that dwarf F2 plants
continued to generate dwarf
plants in F3 and F4 generations.
 He concluded that genotype of
the dwarfs was homozygous – t.
BACK
BACKCROSS
CROSSAND
ANDTEST
TESTCROSS
CROSS
 Backcross: Crossing of F1 hybrid back with any of the parent.
 Testcross: Crossing of an F1 hybrid with its recessive parent. It is used to
find out the unknown genotype.
 Mendel conducted test cross to determine the F2 genotype.
MENDEL’S
MENDEL’SPRINCIPLES
PRINCIPLESOR
ORLAWS
LAWSOF
OFINHERITANCE
INHERITANCE
First Law: Second Law:

Law of Dominance Law of Segregation
“During gamete formation, the
factors (alleles) of a character pair
 Characters are controlled by
present in parents segregate from
discrete units called factors.
each other such that a gamete
 Factors occur in pairs.
receives only one of the 2 factors”.
 In a dissimilar pair of factors one
Homozygous parent produces
member of the pair dominates
similar gametes.
(dominant) the other
Heterozygous parent produces two
(recessive).
kinds of gametes each having one
allele with equal proportion.
NON-MENDELIAN
INHERITANCE
1. Incomplete Dominance
2. Co-dominance
3. Multiple allelism
4. Polygenic inheritance
5. Pleiotropy
1.1.INCOMPLETE
INCOMPLETEDOMINANACE
DOMINANACE
 It is the inheritance in which the offspring shows characteristics
intermediate between two extreme parental characteristics.
 E.g. Flower colour in snapdragon (dog flower or Antirrhinum sp.)
and Mirabilis jalapa (4’O clock plant).
1.1.INCOMPLETE
INCOMPLETEDOMINANACE
DOMINANACE
Phenotypic ratio= 1:2:1

(1 Red: 2 Pink: 1 White)
Genotypic ratio = 1:2:1
(1 RR: 2 Rr : 1 rr)
Here, phenotypic and genotypic
ratios are same.
• This means that R was not

completely dominant over r.
• Pea plants also show incomplete
dominance in other traits.
2.2.CO-DOMINANACE
CO-DOMINANACE
It is the inheritance in which both alleles of a gene are expressed in a
hybrid. E.g. ABO blood grouping in human.
 ABO blood groups are controlled by

the gene I.
 It controls the production of sugar
polymers (antigens) that protrude
from plasma membrane of RBC.
 The gene I has three alleles IA, IB & i.
 IA & IB produce a slightly different
form of the sugar. Allele i doesn’t
produce any sugar.
2.2.CO-DOMINANACE
CO-DOMINANACE
Genotypes of different blood groups
Blood group Genotype
A IAIA or IAi
B IBIB or IBi
AB IAIB
O ii
2.2.CO-DOMINANACE
CO-DOMINANACE
Alleles from Alleles from Genotype of Blood types
parent 1 parent 2 offspring (phenotype)
IA IA IA IA A
IA IB IA IB AB
IA i IAi A
IB IA IA IB AB
IB IB IB IB B
IB i I Bi B
i i ii O
When IA and IB are present together they both express their own types
of sugars. This is due to co-dominance.
3.3.MULTIPLE
MULTIPLEALLELISM
ALLELISM
I A
 It is the condition in which more

than two alleles govern the same
character.
I B
i
 E.g. Alleles of ABO blood grouping
(3 alleles: IA, IB and i).
4.4.POLYGENIC
POLYGENICINHERITANCE
INHERITANCE
 It is the inheritance in which some traits are controlled by three or

more genes (multiple genes).
 E.g. human skin colour, human height etc.
 Polygenic inheritance also takes into account the influence of
environment.
 In a polygenic trait, phenotype reflects the contribution of each allele,
i.e., the effect of each allele is additive.
4.4.POLYGENIC
POLYGENICINHERITANCE
INHERITANCE
Human skin colour
 Assume that 3 genes A, B, C control human skin colour.
 Dominant forms A, B & C responsible for

dark skin colour and recessive forms a, b &
c for light skin colour.
 Genotype with all the dominant alleles
(AABBCC) = darkest skin colour.
 Genotype with all the recessive alleles
(aabbcc) = lightest skin colour.
 Genotype with 3 dominant alleles + 3
recessive alleles = intermediate skin colour.
Thus, number of each type of alleles in the genotype determine the

Thus, number of each type of alleles in the genotype determine the
darkness or lightness of the skin.
darkness or lightness of the skin.
5.5.PLEIOTROPY
PLEIOTROPY
 Here, a single gene exhibits multiple phenotypic expressions. Such a
gene is called pleiotropic gene.
 In most cases, mechanism of

pleiotropy is the effect of a gene on
metabolic pathways which contributes
towards different phenotypes.
 E.g. Starch synthesis in pea,
phenylketonuria, sickle cell anaemia etc.
Phenylketonuria & sickle cell anaemia are genetic diseases in which the
mutant gene exhibits many phenotypic effects. E.g. Phenylketonuria
results in mental retardation, reduction in hair and skin pigmentation.
5.5.PLEIOTROPY
PLEIOTROPY
Starch synthesis in pea plant
 Starch is synthesized effectively by BB gene.
Therefore, large starch grains are produced.
 bb have lesser efficiency in starch synthesis and
produce smaller starch grains. It also shows
incomplete dominance.
Effective starch synthesis Lesser starch synthesis
x
BB bb
Large sized seeds Small sized seeds
Gametes B b
Bb (intermediate sized seeds)

THE
THECONCEPT
CONCEPTOF
OFDOMINANCE
DOMINANCE
In heterozygotes, there
are dominant and
recessive alleles.
• Normal (unmodified or functioning) allele produces a normal enzyme that

is needed for the transformation of a substrate.
• Modified allele produces any one of the following effects:
 Normal/less efficient enzyme: In this case, modified allele produces the
same phenotype like unmodified allele. It becomes dominant.
 A non-functional enzyme In these cases, the phenotype depends only
 No enzyme at all on the functioning of unmodified allele.
Here, modified allele becomes recessive.
INHERITANCE
INHERITANCEOFOFTWO
TWOGENES
GENES
Dihybrid cross
 It is a cross between two parents differing in 2 pairs of contrasting
characters.
 Mendel made some dihybrid crosses in Pea plant.
E.g. Cross between pea plant with round shaped & yellow coloured seeds
(RRYY) and wrinkled shaped & green coloured seeds (rryy).
INHERITANCE
INHERITANCEOFOFTWO
TWOGENES
GENES
Dihybrid cross
Round Yellow Wrinkled Green

Parents: X rryy
RR YY
Gametes: RY ry
F1: RrYy (Round yellow)

Selfing: RrYy X RrYy
Gametes: RY Ry rY ry RY Ry rY ry
F2:
INHERITANCE
INHERITANCEOFOFTWO
TWOGENES
GENES
Dihybrid cross
RY Ry rY ry
RY RRYY RRYy RrYY RrYy

RY Round yellow Round yellow Round yellow Round yellow
RRYy RRyy RrYy Rryy

F2 : Ry
Round yellow Round green Round yellow Round green
rY RrYY RrYy rrYY rrYy

Round yellow Round yellow Wrin. yellow Wrin. yellow
ry RrYy Rryy rrYy rryy

Round yellow Round green Wrin. yellow Wrin. green
INHERITANCE
INHERITANCEOFOFTWO
TWOGENES
GENES
Dihybrid cross
On observing F2, Mendel found that the yellow & green colour segregated
in a 3:1 ratio. Round & wrinkled seed shape also segregated in a 3:1 ratio.
Dihybrid Phenotypic ratio

 Round yellow 9: Round green 3: Wrinkled yellow 3:
Wrinkled green 1.
 It is derived as a combination series of 3 yellow: 1
9:3:3:1
green, with 3 round: 1 wrinkled. i.e. (3: 1) (3: 1) = 9:
3: 3: 1
Dihybrid genotypic ratio

RRYY =1 RRYy =2 RrYY =2
RrYy =4 Rryy =1 Rryy =2 1:2:1:2:4:2:1:2:1
rrYY =1 rrYy =2 rryy =1
Third
ThirdLaw
Law(Mendel’s
(Mendel’sLaw
LawofofIndependent
IndependentAssortment)
Assortment)
‘When more than one pair of characters are involved in a cross, factor
pairs independently segregate from the other pair of characters’.
Why did Mendel’s work remain unrecognized?
 Communication was not easy and his

work could not be widely publicized. Mendel’s last words
 The concept of genes (factors) as
stable and discrete units was not
accepted. i.e. Mendel could not
explain the continuous variation seen
“Meine zeit word
in nature.
schoon kommen’’
 Mendel’s mathematical approach was
totally new and unacceptable.
 Mendel could not provide any physical
proof for the existence of factors.
In 1900, de Vries, Correns & von Tschermak independently rediscovered

Mendel’s results.
CHROMOSOMAL THEORY OF INHERITANCE
 Propose by Walter Suton & Theodore Boveri (1902).

 It states that the pairing and separation of a pair of chromosomes lead
to segregation of a pair of factors they carried.
 Suton united chromosomal segregation with Mendelian principles and
called it the chromosomal theory of inheritance.
Important statements of Chromosomal theory
• Chromosomes are vehicles of heredity. They are transmited from parents to
offspring, i.e. they are immortal.
• Two identical chromosomes with similar genes form a homologous pair.
• Homologous pair segregate during gamete formation.
• Independent pairs segregate independently of each other.
• Chromosomes are mutable.
Genes are present on chromosomes. Hence they show similar behaviours.

Segregation of homologous chromosomes
Independent assortment
MORGAN’S EXPERIMENT
Thomas Hunt Morgan worked with

the fruit files (Drosophila
melanogaster) to prove
chromosomal theory of inheritance.
Drosophila is a suitable material for genetic study because,
 It breeds very quickly.

 Short generation time (life cycle: 12-14
days).
 Breeding can be done throughout the
year.
 Hundreds of progenies per mating.
 They can grow on simple synthetic
medium.
 Male and female flies are easily
distinguishable.
 It has many hereditary variations that can
be seen with low power microscopes.
Linkage and Recombination
Linkage: Physical association of 2 or more genes on a chromosome.
Linked genes do not show independent assortment.
Recombination: Generation of non-parental gene combinations.
Morgan carried out several dihybrid crosses in Drosophila to study sex-
linked genes. E.g.
Cross 1
Yellow-bodied, white-eyed females (yyww)
X
Brown-bodied, red-eyed males (wild type, y+y+w+w+)
Cross 2
White-eyed, miniature winged (wwmm)
X
Red eyed, large winged (wild type, w+w+m+m+)
Morgan intercrossed their F1 progeny. He found that
 The two genes did not segregate independently and
the F2 ratio deviated from the 9:3:3:1 ratio.
 Genes were located on the X chromosome.
 When two genes were situated on same
chromosome, proportion of parental gene
combinations was much higher than the non-parental
type. This is due linkage.
 Genes white & yellow were very tightly linked and
showed only 1.3% recombination. White & miniature
wing showed 37.2% recombination (loosely linked).
Tightly linked genes show low recombination.
Loosely linked genes show high recombination.
 Alfred Sturtevant used the

recombination frequency between
gene pairs as a measure of the distance
between genes and ‘mapped’ their
position on the chromosome.
 Today genetic maps are used as a
starting point in the sequencing of
genomes as was done in Human
Genome Project.
SEX
SEXDETERMINATION
DETERMINATION
Autosomes and Sex chromosomes (allosomes)
• Autosomes are the chromosomes

other than sex chromosomes.
Number of autosomes is same in
males and females.
• Sex chromosomes (X & Y) are the
chromosomes which involve in
sex determination.
• Henking (1891) studied
spermatogenesis in some insects
and discovered X-chromosome.
SEX
SEXDETERMINATION
DETERMINATION
Mechanism of sex determination
1. XX-XO mechanism
• Male is heterogametic. i.e. XO (Gametes with X-chromosomes and
gametes without X-chromosomes).
• Female is homogametic. i.e. XX (all gametes are with X-chromosomes).
• E.g. Many insects such as grasshopper.
SEX
SEXDETERMINATION
DETERMINATION
2. XX-XY mechanism
• Male is heterogametic (X and Y) and female is homogametic (X only).
• E.g. Human and Drosophila.
SEX
SEXDETERMINATION
DETERMINATION
3. ZZ-ZW mechanism
• Male is homogametic (ZZ) and female is heterogametic (Z & W).
• E.g. Birds.
XX-XO and XX-XY mechanisms show male heterogamety.

ZZ-ZW mechanism shows female heterogamety.
SEX
SEXDETERMINATION
DETERMINATION
Sex Determination in Humans (XX-XY type)
• Human has 23 pairs of

chromosomes (22 pairs of
autosomes + 1 pair of sex
chromosomes).
• A pair of X-chromosomes (XX) is
present in female.
• X & Y chromosomes (XY) are present
in male.
SEX
SEXDETERMINATION
DETERMINATION
Sex Determination in Humans (XX-XY type)
• During spermatogenesis males

produce 2 types of gametes- 50%
with X chromosome and 50%
with Y chromosome.
• Females produce only ovum with
an X-chromosome.
• There is an equal probability of
fertilization of ovum with the
sperm carrying either X or Y
chromosome.
The sperm determines whether the offspring male or female.

SEX
SEXDETERMINATION
DETERMINATION
Sex determination in honeybee
• It is based on the number of sets of

chromosomes an individual receives.
• An offspring formed from the union
of a sperm and an egg develops as a
female (queen or worker).
• An unfertilised egg develops as a
male (drone). It is called
parthenogenesis.
SEX
SEXDETERMINATION
DETERMINATION
Sex determination in honeybee
• Therefore, the females are diploid (32 chromosomes) and males are
haploid (16 chromosomes). This is called as haplodiploid sex determination
system.
• In this system, males produce sperms by mitosis. They do not have father
and thus cannot have sons, but have a grandfather and can have
grandsons.
MUTATION
MUTATION
• It is a sudden heritable change occurring in DNA sequences that results

changes in the genotype and the phenotype of an organism.
• Recombination and mutation leads to variation in DNA.
MUTATION
MUTATION
Types of mutation
Frame-shift mutation
• Loss (deletions) or gain (insertion/
duplication) of a DNA segment.
Point mutation
• Mutation due to change in a
single base pair of DNA.
• E.g. sickle cell anemia.
MUTATION
MUTATION
• Genes are located on chromosomes, so
mutation results in abnormalities
(aberrations).
• Chromosomal aberrations are seen in
cancer cells.
Mutagens (agents inducing mutation)

• Physical mutagens: UV radiation, α, β,
γ rays, X-ray etc.
• Chemical mutagens: Mustard gas,
phenol, formalin, acetic acid, formic
acid, NH3 etc.
PEDIGREE
PEDIGREEANALYSIS
ANALYSIS
 In human, control crosses are not possible.

So the study of family history about
inheritance is used. Such an analysis of
traits in several generations of a family is
called pedigree analysis.
 The representation or chart showing family
history is called family tree (pedigree).
 In human genetics, pedigree study is
utilized to trace the inheritance of a specific
trait, abnormality or disease.
SYMBOLS USED IN PEDIGREE ANALYSIS
Mating b/w relatives
Male:
(consanguineous mating):
Parents above
Female:
and children below
Parents with male child

Sex unspecified:
affected with disease
Affected
individual:
Five unaffected offspring
Mating: 5
GENETIC
DISORDERS
The disorders due to change in genes or chromosomes.
GENETIC DISORDERS
Mendelian Disorders
• The disorders caused by alteration or

mutation in the single gene.
• The patern of inheritance of Mendelian
disorders can be traced in a family by
pedigree analysis.
• Mendelian disorders may be dominant or
recessive.
• By pedigree analysis, it is easy to understand
whether the trait is dominant or recessive.
GENETIC DISORDERS
Mendelian Disorders
Representative pedigree analysis of

(a) Autosomal dominant trait (E.g. Myotonic dystrophy)
(b) Autosomal recessive trait (E.g. Sickle-cell anaemia).
Mendelian Disorders
Haemophilia
• Sex linked recessive disease.

• In this, a protein involved in the blood
clotting is affected.
• A simple cut results in non-stop bleeding.
• It is controlled by a pair of allele, H & h.
• H is normal allele. h is responsible for
haemophilia.
Mendelian Disorders
Haemophilia
• The heterozygous female (carrier)

for haemophilia may transmit the
disease to sons.
• The possibility of a female becoming
a haemophilic is very rare because
mother has to be at least carrier and
father should be haemophilic
(unviable in the later stage of life).
• Queen Victoria was a carrier of the
disease. So her family pedigree
shows a number of haemophilic
descendents.
Mendelian Disorders
Sickle cell Anaemia
• This is an autosome linked recessive trait.

• It can be transmited from parents to the
offspring when both the partners are
carrier for the gene (or heterozygous).
• The disease is controlled by a pair of
allele, HbA & HbS.
• Homozygous dominant (HbAHbA) : Normal

• Heterozygous (HbAHbS ): Carrier; sickle cell trait
• Homozygous recessive (HbSHbS) : Affected.
Mendelian Disorders
Sickle cell Anaemia
• The disease is caused by the

substitution of Glutamic acid (Glu) by
Valine (Val) at the 6th position of the
β-globin chain of haemoglobin.
• This is due to single base
substitution at the 6th codon of the β-
globin gene from GAG to GUG.
• The mutant haemoglobin molecule
undergoes polymerization under low
oxygen tension causing the change in
shape of the RBC from biconcave disc
to elongated sickle like structure.
Mendelian Disorders
Sickle cell Anaemia
Hb A peptide
(normal) Glu
Hb S peptide
Val
(affected)
Mendelian Disorders
Phenylketonuria
• An inborn error of metabolism.

• Autosomal recessive trait.
• It is caused by mutation in the gene
that codes for the enzyme phenyl
alanine hydroxylase (single gene
mutation).
• The affected individual lacks this enzyme that converts the amino acid
phenylalanine into tyrosine. As a result, phenylalanine accumulates and
converts into phenyl pyruvic acid and other derivatives.
• They accumulate in brain resulting in mental retardation. These are also
excreted through urine because of poor absorption by kidney.
Mendelian Disorders
Thalassemia
• It is an autosome-linked recessive blood disease .
• It is transmited from parents to the offspring when both the partners
are unaffected carrier for the gene (or heterozygous).
• It is due to mutation or deletion.

• It results in reduced synthesis of one of
the globin chains (a and b chains) that
make up haemoglobin.
• This forms abnormal haemoglobin
molecules resulting into anaemia.
Thalassemia differs from sickle-cell anaemia. Thalassemia is a quantitative

problem (synthesis of few globin molecules). Sickle cell anaemia is a qualitative
problem (synthesis of an incorrectly functioning globin).
Mendelian Disorders
Thalassemia
Thalassemia is two types:
a Thalassemia b Thalassemia
• Here, production of a globin • Here, production of b globin
chain is affected. chain is affected.
• It is controlled by two closely • It is controlled by a single gene
linked genes HBA1 & HBA2 on HBB on chromosome 11 of each
chromosome 16 of each parent. parent.
• It is due to mutation or deletion • It occurs due to mutation of one
of one or more of the 4 genes. or both the genes.
• The more genes affected, the
less alpha globin molecules
produced.
CHROMOSOMAL
DISORDERS
Chromosomal Disorders
The disorders caused due to absence or

excess or abnormal arrangement of one or
more chromosomes.
Aneuploidy
• It is the gain or loss of chromosomes due to failure of segregation of
chromatids during cell division.
• It includes,
 Nullisomy (2n-2): A chromosome pair

is lost from diploid set.
 Monosomy (2n-1): A chromosome is
lost from diploid set.
 Trisomy (2n+1): A chromosome is
added to diploid set.
 Tetrasomy (2n+2): 2 chromosomes
are added to diploid set.
Polyploidy
• It is an increase in a whole set of chromosomes due to failure of
cytokinesis after telophase stage of cell division.
• This is often seen in plants and very rare in human.
Down’s syndrome (Mongolism)
• It is the presence of an additional copy of

chromosome number 21 (trisomy of 21).
• Genetic constitution: 45 A + XX or 45 A +
XY (i.e. 47 chromosomes).
Features
• Short statured with small round head.
• Furrowed tongue & partially open mouth.
• Palm is broad with characteristic palm
crease.
• Retarded physical, psychomotor &mental
development.
• Congenital heart disease.
Klinefelter’s Syndrome
• It is the presence of an additional copy of X-chromosome in male.
• Genetic constitution: 44 A + XXY (i.e. 47 chromosomes).
Features
• Overall masculine
development, however,
feminine development
(development of breast,
i.e., Gynaecomastia) is
also expressed.
• Sterile.
• Mentally retarded.
Turner’s syndrome
• This is the absence of one of the X chromosomes
in female.
• Genetic constitution: 44 A + X0 (i.e. 45
chromosomes).
Features
• Sterile, Ovaries are rudimentary.
• Lack of other secondary sexual
characters.
• Dwarf.
• Mentally retarded.
THE END
Prepared by: K.C. MUHAMMED ALI
Visit: bankofbiology.blogspot.com

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This presentation is prepared by

Mendel selected 7 pairs of

Characters Dominant Recessive

1. Stem height Tall Dwarf

2. Flower colour Violet White

3. Flower position Axial Terminal

4. Pod shape Inflated Constricted

5. Pod colour Green Yellow

6. Seed shape Round Wrinkled

7. Seed colour Yellow Green

Monohybrid phenotypic ratio

 Mendel made similar

 Mendel self-pollinated the F2 and

First Law: Second Law:

Phenotypic ratio= 1:2:1

• This means that R was not

 ABO blood groups are controlled by

Blood group Genotype

 It is the condition in which more

 It is the inheritance in which some traits are controlled by three or

 Dominant forms A, B & C responsible for

Thus, number of each type of alleles in the genotype determine the

 In most cases, mechanism of

Bb (intermediate sized seeds)

• Normal (unmodified or functioning) allele produces a normal enzyme that

Round Yellow Wrinkled Green

F1: RrYy (Round yellow)

RY RRYY RRYy RrYY RrYy

RRYy RRyy RrYy Rryy

rY RrYY RrYy rrYY rrYy

ry RrYy Rryy rrYy rryy

Dihybrid Phenotypic ratio

Dihybrid genotypic ratio

 Communication was not easy and his

In 1900, de Vries, Correns & von Tschermak independently rediscovered

 Propose by Walter Suton & Theodore Boveri (1902).

Genes are present on chromosomes. Hence they show similar behaviours.

Thomas Hunt Morgan worked with

 It breeds very quickly.

 Alfred Sturtevant used the

• Autosomes are the chromosomes

XX-XO and XX-XY mechanisms show male heterogamety.

• Human has 23 pairs of

• During spermatogenesis males

The sperm determines whether the offspring male or female.

• It is based on the number of sets of

• It is a sudden heritable change occurring in DNA sequences that results

Mutagens (agents inducing mutation)

 In human, control crosses are not possible.

Parents with male child

• The disorders caused by alteration or

Representative pedigree analysis of

• Sex linked recessive disease.

• The heterozygous female (carrier)

• This is an autosome linked recessive trait.

• Homozygous dominant (HbAHbA) : Normal

• The disease is caused by the

• An inborn error of metabolism.

• It is due to mutation or deletion.

Thalassemia differs from sickle-cell anaemia. Thalassemia is a quantitative

The disorders caused due to absence or

 Nullisomy (2n-2): A chromosome pair

• It is the presence of an additional copy of

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