UNIT 2

HREDIRTY

 Genetics: is a branch of biology that deals with the study of heredity and variation.

 Heredity: is the transmission of characters from parents to offspring involving genes and
chromosomes.

2.1 Mitosis and meiosis

 Almost all the cells of your body – with the exception of your mature red blood cells– contain a
nucleus, the ‘control room’ of the cell.
 In every living organism, the nucleus of the cells contains the information needed to build a
whole new organism.
 Inside the nucleus of every cell there are thread-like structures called chromosomes. This is
where the genetic information passed on from parent to child is stored.

Chromosomes:-

 Are made from the DNA (deoxyribonucleic acid), which is bound with histone proteins.
 Made up of two pairs known as chromatids held together at point called centromere
 Each different type of organism has a different number of chromosomes in the cells
Example: - humans have 46 chromosomes (23 pairs)
- Tomatoes have 24 ( 12 pairs)
- elephants have 56 ( 28 pairs)
 Chromosomes come in pairs known as homologous pairs
 Scientists can photograph the chromosomes in human cells when they are dividing and
arrange them in pairs to make a special picture known as a karyotype.
 Human karyotypes show 23 pairs of chromosomes.
 22 pairs of chromosomes are known as the autosomes.
 1 pair is sex chromosome. They determine whether you are male or female
 A girl has a pair of two similar X chromosomes (XX)
 A boy has one X-chromosome and another, much smaller, Y-chromosome.

Gene is:-

 the smallest unit of inheritance(heredity)

 The shorter segment of chromosomes or Gene is a small section of DNA

 Locus(plural loci):- the position of particular gene on chromosome

 control the set of hereditary characteristics in organisms

 determine the structural, physiological and biochemical characteristics of organisms

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  Alleles are different form of the same gene

DNA

 a big molecule which is made up of smaller molecule called nucleotides

 nucleotide has three components:-

- a five carbon sugar(pentose sugar)

- phosphate group(phosphoric acid)

- One of nitrogenous bases(Adenine, Guanine, Thiamine and Cytosine)

 Adenine and Guanine are called purines

 Cytosine and Thiamine are called pyrimidine
 Adenine always pairs with Thiamine (A - T)
 Guanine always pairs with Cytosine ( G – C )

The difference between pyrimidine and purine

Pyrimidine Purine
-single ring of carbon and nitrogen atom -two ring of carbon and nitrogen atoms
-Smaller molecule -Larger molecule
-contains thiamine, cytosine and uracil -contains adenine and guanine
 Both types of nucleic acids (DNA and RNA) are made from structures called nucleotides.

 All nucleotides have the same three components:

- a phosphate group

- a pentose sugar (deoxyribose in DNA nucleotides and ribose in RNA nucleotides), and

- One of the four nitrogenous bases – Adenine, Cytosine, Guanine and either Thymine (in DNA) or
Uracil (in RNA).

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The difference between DNA and RNA

DNA RNA

- Huge - Much smaller

-Very stable -Less stable

-Two stranded -Single stranded

-Store and transfer genetic information -Directly code for amino acids

-Has deoxy ribose sugar -Has ribose sugar

- Mostly located in chromosomes, some in -Mostly located in chromosomes and

mitochondria and chloroplasts. ribosomes.

- Self replicating -Formed from DNA. Self-replication only in some

viruses
- Genetic role
- Protein synthesis role, genetic role in some viruses

Cell cycle

 It is the period (time) required to complete the entire sequence of events happening from the
end of one nuclear division to the beginning of the next division.
 It Comprises four major coordinated processes
1, cell growth
2, DNA/Chromosomes replication
3, deliberation of the duplicated chromosomes to daughter cells
4, cytoplasmic (cell) division
 Cell cycle Consists of two major phases. These are

1, Interphase

2, Cell division or M-phase

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1, Interphase

 It is “resting “ or non-mitotic portion of the cell cycle

 DNA synthesizes and most cell growth occurs
 Comprised of three consecutive sub-phases:-

a, G1 phase

b, S phase

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c, G2 phase

a, G1-phase:-

 is the first gap phase used for cell growth and metabolism
 pre-DNA replication phase
 the longest and variable phase of the cell cycle
 Synthesis of RNA and protein for DNA replication take place

b, S-Phase: -

 DNA synthesis phase

 DNA and Chromosomes replication take place
 Takes less time than G1-phase

c, G2-Phase:-

 post-DNA replication phase

 Cell Preparation phase for mitosis
 Second cell growth phase and called the 2nd gap phase
 Synthesis of RNA and protein takes place

2, Cell division (M phase):-

 is the division of cells to ensure the continuity of life b/c all cells are produced by the continuous
division of pre-existing cells
 two process occurred (cytokinesis-division of cytoplasm and karyokinsis –division of nucleus)
 There are two major types of cell division. These are:-
1, Mitosis
2, Meiosis

1, Mitosis

 Mitosis is a type of cell division in which the nucleus divides into nuclei containing the same
number of identical chromosomes
 Mitosis is division of the somatic cells to make identical daughter cells.
 Before a cell divides, it produces new copies of the homologous pairs of chromosomes
in the nucleus. Each chromosome forms two identical chromatids
 Then the chromatids divide into two identical packages, and the rest of the
Cytoplasm divides as well to form two genetically identical daughter cells
 Once the new cells have formed, the chromatids are again referred to as chromosomes
 The daughter cells each have exactly the same number of chromosomes as the original
cell.

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  Occurs in the following stage:-
1, Prophase
- Chromatin thicken and shorten
- Sister Chromatids held together by centromere
- Spindle fiber is formed
- Centrioles split and migrate to opposite poles
- Nucleolus disintegrate(disappeared)
- Nuclear envelope(membrane) disappeared
- The longest phase in mitosis
2, Metaphase
- Each chromosome align on the equatorial plate of the spindle
3, Anaphase
- Sister Chromatids separated ( due to repulsion between them and over shortening of spindle)
and move to the opposite pole
4, Telophase
- Chromosomes reach the opposite pole
- Spindle fiber disappeared
- Nucleolus re-formed
- Cytoplasm divided in to two equal daughter cells
- Two daughter cells obtained from single mother cell

Significances of Mitosis: -

 Growth and development of organisms

 Maintain genetic consistency
 Repair and Replacements of the damaged cells & tissues
 Responsible for asexual reproduction
 Overcome aging of cells (renew the old cell)

End results of Mitosis:

 Two daughter cells from a single mother cell

 sets of chromosomes are identical in daughter and mother cell
 Quantity and quality of genes of mother and daughter cell is identical

2, Meiosis

 Takes place in sexually reproducing organisms

 The reproductive organs in humans are the ovaries and the testes. This is where the
sex cells (the gametes) are made.
 The female gametes, or ova, are made in the ovaries; the male gametes, or sperm, are
made in the testes
 The cell division that takes place in the reproductive organ cells and produces gametes is known
as meiosis.

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  Meiosis is a special form of cell division where the chromosome number is reduced by half.
 When a cell divides to form gametes, the chromosomes are copied so there are four
sets of chromatids.
 These cells then divide again immediately, without the chromatids doubling again, in
the second meiotic division.
 This forms four gametes, each with a single set of chromosomes.
 Meiosis occurs as part of a process known as gametogenesis, or gamete formation.
 The production of sperm is called spermatogenesis; In females the production of ova is
called oogenesis.
 Consist of two consecutive divisions(meiosis I-reductional division and meiosis II- Equatioinal
division )
 Meiosis-I phases (prophase-I, metaphase-I, anaphase-I & Telophase-I)
 Meiosis-II phases (prophase-II, metaphase-II, anaphase-II & Telophase-II)

Meiosis I

 Involves separation of homologous chromosomes.

 Consists of four consecutive phases. These are:-

Prophase-I: -

 takes long time

 Each chromosome appears in the condensed form with two chromatids.
 Homologous pairs of chromosomes associate with each other
 Crossing over occurs

Metaphase-I:

 Assembly of spindle fiber is completed

 Homologous chromosomes pairs align on the metaphase plate of the spindle (center of the
spindle)

Anaphase-I

 Homologous chromosomes pairs separate and maternal and paternal chromosomes migrate
towards opposite poles
 As a result the chromosome number in each cell is half that of the original

Telophase-I

 spindle fiber is disappeared

 Nucleolus re-formed
 Nuclear membrane re-formed
 Cytokinesis may occur or may be postponed

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  The nuclear membrane reforms and the cells begin to divide.

Meiosis-II

 Involves separation of sister chromatids

 Similar to mitotic division (equatioinal division ) in process
 Consists of four consecutive phases. These are:-

Prophase-II:

 chromosomes condensed & shortened

 Nucleolus and nuclear envelope disappeared
 Spindle fiber is formed

Metaphase-II:

 Assembly of spindle fiber is completed

 Each chromosomes align on the equatorial plate of the spindle (center of the spindle fiber)
 new spindles are formed and the chromosomes, still made up of pairs of chromatids, line up on
the metaphase plate

Anaphase-II:

 The Centromere that join Sister Chromatids is divided

 Sister Chromatids separate and migrate towards opposite poles
 the centromeres now divide and the chromatids move to the opposite ends of the cell

Telophase-II :

 nuclear envelopes reform, the chromosomes return to their interphase state, cytokinesis occurs,
giving four daughter cells each with half the chromosome number of the original diploid cell

Significances of Meiosis:

 Facilitate segregation and independent assortment of chromosomes and genes

 Induce genetic variability due to crossing over and independent assortment of chromosomes
 Maintain a definite & constant number of chromosomes in a species
 Responsible for sexually reproducing organisms to produce gametes

End results of Meiosis:

 Four daughter cells from a single mother cell

 Daughter cells have half number of chromosomes of the mother cell
 daughter cells are genetically variable from mother cell

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Comparison of mitosis and meiosis

Features Mitosis Meiosis

where does it take place? Somatic cells (normal body cells)
Chromosomes in daughter Same number of chromosomes
cells? as original cell
Number of daughter cells? 2 4
Variety? Daughter cells identical to
parent cells
DNA replication? Always occurs
How often? Varies from every few hours to
every few years, depending on
cell type and age
Germ cells found in reproductive (sex)
organs
Half the chromosome number of
original cell
Daughter cells different from parent
cells – always variety
Always occurs at first meiotic division,
never at second meiotic division
In girls – first division before birth;
second division monthly, completed on
fertilization Stops at menopause
In boys – doesn’t start until puberty,
then continues steadily throughout life

2.2 Mendelian inheritance

Historical background of Gregor Mendel

 Was born in 1822, part of Austria (is now a part of the Czech Republic) from Austrian farmers
 He grafted many plants before because his father is a plant grafter
 In 1856, Mendel began studies on pea plants
 He published his work, entitled Experiments on Plant Hybrids, in 1866
 He is a father of genetics
 He was an Austrian monk and priest
 In 1884, Gregor Mendel died from complications due to kidney failure.

Mendelian inheritance in planrts

Mendel’s experimental organism

 Mendel chose the garden pea (Pisum sativum) due its ideal characteristics:-
 they were available in several varieties in which a character existed in two distinct variants
 easy to grow-interbreed
 easy to carry out self-fertilization experiments
 easily crossbred in designed experiments
 reproduces well and mature in a single season( short maturation time)
 Show many observable contrasting traits
 Produce many progeny at a time

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Traits P1 X P1 F1 F1 X F1 → F2
Dominant X Recessive
Stem length Tall Short All tall 3 tall : 1 short
Flower arrangement Axial Terminal All axial 3 axial : 1 terminal
Flower color Red White All red 3 red : 1 white
Pod color Green Yellow All green 3 green : 1 yellow
Pod shape Inflated Pinched All inflated 3 inflated : 1 pinched
Seed color Yellow Green All yellow 3 yellow : 1 green
Seed shape Round Wrinkled All round 3 round : 1 wrinkled

Example

The height of the pea plant is inherited as a dominant allele T for tall or a recessive allele t for short.
Thus T = tall

t = short

a) TT X tt

T T
T Tt Tt
T Tt Tt
Genotype;- Tt

All tall

b) Tt X Tt

T t
T TT Tt
t Tt tt

Genotype:- 1TT, 2Tt, 1tt

Genotypic ratio = 1:2:1

Phenotypic ratio = 3:1

c) Tt X tt

T T
T Tt Tt
T Tt Tt
Genotype:- 2Tt, 2tt

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Genotypic ratio = 1:1

Phenotypic ratio = 1:1

Homozygous: - having the same allele for a gene on the homologous chromosomes e.g. TT, RR, tt and
etc.

Heterozygous: - having different allele for a gene on homologous chromosomes e.g. Tt, Rr and etc.

Genotype: - the genetic composition of an organism.

- It is the gene present in an organism

Phenotype: - extremely observable traits of an organism.

- It is the observed character or appearance.

Dominant allele: - allele expressed in heterozygous condition

 Masks the effect of recessive allele when paired

Recessive allele: - -allele that is expressed only in homozygous condition

 Masked by dominant allele when paired

Chromatids:- are the two strands of chromosome that separate during mitosis

Monohybrid cross: - involves the inheritance of one characteristic at a time

Dihybrid cross: - involves the inheritance of two characteristics at a time

Phenotypic ratio = Dominant: Recessive

Genotyping ratio = Homozygous dominant: Heterozygous dominant: Homozygous recessive

Mendelian genetics in people

There are genes that decide whether:

 your earlobes are attached closely to the side of your head or hang free
 your thumb is straight or curved
 you have dimples or not when you smile
 You are right handed or left handed and etc.

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Traits P1 X P1 F1 F1 X F1 → F2
Dominant X Recessive
Dimplen Dimple No dimple All dimple 3 dimple : 1 no dimple
Ear lobe Dangly Attached All dangly 3 dangly : 1 attached
Thumbs Straight curved All straight 3 straight ; 1 curved
Tongue rolling Roller Non roller All roller 3 roller : 1 non roller
Handedness Right handed Left handed All right handed 3 right handed : 1 left handed
Example

a) D = dangly earlobes

d = attached earlobes
Phenotype of parents Dangly Attached

Genotype of parents DD x dd

Gametes D D d d

D D
D Dd Dd
D Dd Dd

Genotype All Dd
Phenotype: all dangly earlobes

b) Phenotype of parents Dangly Attached

Genotype of parents Dd x dd

Gametes D d d d

D d
d Dd dd
d Dd dd

Genotype: 2Dd, 2dd

Phenotype: 1 : 1
dangly : attached
c) Phenotype of parents Dangly Dangly

Genotype of parents Dd x Dd

Gametes D d D d

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 D d
D DD Dd
D Dd dd

Phenotype:- 3 : 1

Dangly: attached

Blood group inheritance in human

 In human the blood type is controlled by the allele A, B and O

 Allele A and B are always dominant
 Allele O is recessive when it pairs with alleles A and B

Genotype Phenotype
AA Type A
AO Type A
BB Type B
BO Type B
AB Type AB
OO Type O

Example: - If a man with blood type A (AO) married a woman with blood type B(BO), what is the possible
blood type of their children?

AO X BO

B O
A AB AO
O BO OO
Genotype = 1AB: 1AO: 1BO: 1OO

Phenotype of children in percentage 25% type AB, 25% type A, 25% type B, 25% type O

Albinism

 Albinism is inherited condition in which the melanin pigment in the skin, hair and
eyes does not develop.
 The normal allele for pigment to develop is A and it is dominant. The allele for
albinism, a, is recessive
 Albinism is found throughout the animal kingdom and people are not exception.
 Albino individuals are very vulnerable to sun damage to their skin, so they have a
greatly increased risk of developing skin cancer.
 They have to take great care to protect their vulnerable skin from sunlight.
 Their eyes are also very sensitive to light and they often have problems with their
vision but apart from this they lead completely normal lives.
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Example:-

a) How two carriers can produce an albino child?

Parental genotype Aa x Aa

Possible gametes A a A a

A a

A AA Aa

A Aa aa

Genotypes: 1AA : 2Aa : 1aa

Phenotypes: 3 normal : 1 albino

b) How an albino and someone with a normal phenotype but heterozygous might produce an albino
child or a normal child

Parental genotype Aa x aa

Possible gametes A a a a

A a

A Aa aa

A Aa aa

Genotypes: 1Aa : 1aa

Phenotypes: 1 normal : 1 albino

c) How an albino and a homozygous normal individual would never have an albino child

Parental genotype AA x aa

Possible gametes A A a a

A A
a Aa Aa
a Aa Aa

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 Genotype All Aa

Phenotypes All normal

2.3 Heredity and breeding

Breeding enable us to obtain the characteristics we want. This may be:-

 Cows with plenty of milk

 Chickens laying many eggs
 Bulls which provide lots of meat
 Plants resist some disease and give more yield

Breeding can be classified as:--

 Selective breeding and

 Cross breeding

Selective breeding

 It is used to breed for particular traits.

 It is the technique of breeding organisms with desirable traits.
 For selective breeding to work, it is important to use only the best animals which have
the characteristics you want in the breeding programme.
 This means that the male and female animals which have the characteristics you want
should be allowed to mate.
 It helps to preserve organisms with best possible traits

Cross breeding (combination of traits)

 It is the method of improving breeds of animals and plants by combining good traits from two
different breed.
 It involves combining good traits from two different breeds.

Importance of breeding for society

Breeding plants and animals to develop the best possible characteristics is very important for society to:-

 Enable us to make the best possible use of our resources

 Feed our population
 Maintain our genetic diversity
 Provide new and useful genes for the international community

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