12th Bio Chapter 5-6

Principles of Inheritance and Variation 5/ 1
Principle of Inheritance and Variation

INTRODUCTION
• Genetics
Genetics is a branch of biology dealing with inheritance and variation of characters from parents of
offspring.
• Heredity :
1. It is the transmission of genetic characters from parents to the offsprings.
2. It deals with the phenomenon of “like begets like”, e.g., human babies are like human beings in
overall characteristics.
3. About 200 characters are found to be hereditary in man.
• Variations are common in sexually reproducing organisms.

Asexually reproducing organisms are monoparental, hence exhibit no genetic variations .
Variations are of following two types:
(1) Somatogenic Variations: These are acquired variations and are noninheritable in nature. The
ability of an organism to alter its phenotype in response to environment is called phenotypic
plasticity.
(2) Blastogenic Variations: These are germinal variations and are hereditary in nature.
• Branches of Genetics
(i) Transmission genetics or Classical genetics, e.g., It is the study of Mendelian genetics and
nonMendelian genetics.
(ii) Forward genetics : It is the identification of mutated gene using the mutated phenotype.
(iii) Reverse genetics : It is the study of genes whose protein products are unknown.
(iv) Cytogenetics: It is the study of various aspects of chromosomes.
(v) Molecular/biochemical genetics : It is the study of structure and functions of genes.
(vi) Population or biometrical genetics : It is the study of the behavior and effects of gene in
population using mathematical models.
1.MENDEL’S EXPERIMENTS
(i) Gregor Johann Mendel known as the father of genetics proposed the Laws of Inheritance.
(ii) He used garden pea as his sample.
(iii) Large sampling size gave credibility to his collected data.
(iv) Garden pea plant possessed certain completely opposite traits.Example “tall and dwarf
plants”.
(v) He worked on the following seven traits of garden pea:
SNo. Character 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
(vi) True breeding pea lines were obtained by continuous self pollination for several
generations.
(vii) Fourteen true breeding pea lines were selected as pairs, which were similar except for one
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character with contrasting traits.
(viii) Artificial cross pollination (hybridization) was performed on such varieties to obtain first
hybrid generation, known as the first filial progeny or F1.
(ix) However, Mendel’s work did not receive any recognition, it deserved, till 1900.
(x) Mendel’s work remained unnoticed and unappreciated for several years due to following
reasons:
(a) Communication was not easy in those days and his work could not be widely publicized.
(b) His concept of stable, unblending, discrete units or factors for various traits did not find
acceptance from the contemporaries.
(c) His approach of using mathematical and statistical analysis to explain biological
phenomena was totally new and unacceptable to many of the biologists of that time.
(d) He could not provide any physical proof for the existence of factors. It was rediscovery of
his work by a Dutch Hugo de Vries, a German Carl Correns and an Austrian botanist Erich
von Tschermak, independently in 1900, that brought Mendel to limelight. Correns raised
status of Mendel’s generalisations to laws.
1.1 Selection of pea plant

The main reasons for adopting garden pea (Pisum sativum) for experiments by Mendel were
as follows :
(1) Pea has many distinct alternative traits (clear contrasting characters).
(2) Life span of pea plant is short.
(3) Flowers show self (bud) pollination, so are true breeding.
(4) It is easy to artificially crosspollinate the pea flowers. The hybrids thus produced were
fertile.

2. INHERITANCE OF ONE GENE
1. After hybridisation, the F1 generation so obtained resembled only one of its parents (say, all
tall; no dwarf).
2. When 2 plants from F1 generation were self pollinated, the second filial progeny or F2
generation was obtained.
3. Revival of unexpressed trait (dwarf) was observed in some F2 progeny. Both traits, tall and
dwarf, were expressed in F2 in ratio 3:1.
4. Mendel proposed that something is being passed unchanged from generation to generation.
5. He called these things as ‘factors’ (presently called genes).
6. Factors contains and carry hereditary information.
7. Alleles Slightly different form of same factor, two alleles code for a pair of two contrasting
traits. (e.g., tall and dwarf)
2.1 Mono hybrid cross
1. Cross that considers only a single character (e.g., height of the part)
Studying the cross:
2. TT, tt, and Tt are genotypes while the traits, tall and dwarf, are phenotypes.
3. T stands for tall trait while t stands for dwarf trait.
4. Even if a single ‘T’ is present in the genotype, phenotype is ‘tall’. When ‘T’ and ‘t’ are
present together, ‘T’ dominates and suppresses the expression of ‘t’. Therefore, T (for
tallness) is dominant trait while t (for dwarfness) is recessive trait.
5. TT and tt are homozygous while Tt is heterozygous.
6. From the cross, it can be found that alleles of parental pair separate or segregate from each
other and only one allele is transmitted to the gamete.
7. Gametes of TT will have only T alleles; gametes of tt will have only t alleles, but gametes of
Tt will have both T and t alleles.
On the basis of his experimental crosses, he formulated four postulates.
Postulate I:
According to this postulate characters are controlled by a pair of unit factors. The two factors are
now called alleles or allelomorphic pair.
Postulate II :
If two dissimilar unit factors are present in an individual, only one expresses itself. The one which
expresses itself is known as dominant factor, while the second which does not express at all is
known as recessive factor.

Postulate III :
According to this postulate, two contrasting alleles responsible for contrasting traits present in an
individual do not get mixed and get separated from each other at the time of gamete formation by
F1 hybrid and due to their recombination, four combinations can be obtained in equal frequency.
All the above three postulates are based upon Mendel’s monohybrid cross or one gene interaction.
2.2 Allele
1. Term allele was given by Bateson, term homozygous and heterozygous were given by Bateson and
Saunders; genotype, phenotype, gene and pureline by Johannsen.
2. Father of genetics Mendel; Father of Modem genetics Bateson

3. Isoalleles : Alleles that produce similar phenotypes but are distinguishable amongst themselves
through changed optima, e.g., I ,I , I A A 1 2 A3 .
4. Pseudoalleles : Genes are present together side by side and they produce related phenotypes.
These are distinguished from true alleles through rare crossing over, e.g., star (dominant) and
asteroid (recessive) traits in Drosophila.
5. Pure lines (pure breeding line) : A population obtained by continuous inbreeding over many
generations, such that each individual has essentially the same genome as every other member
of the inbred line and that all (or most) loci are homozygous.
Law of dominance and law of segregation can be explained on the basis of monohybrid cross or one
gene interaction.
2.2.1 Law of dominance :
(a) This law states that when two contrasting alleles for a character come together in an
organism, only one is expressed completely and shows visible effect.
(b) It is called dominant and the other allele of the pair which does not express and
remains hidden is called recessive.
(c) This law is not universally applicable.
Plant height is controlled by two alleles Dominant allele (T) and Recessive allele (t)
These two alleles can be present in three forms :
TT Dominant allele expressed (Homozygous)

tt Recessive allele expressed
Tt Dominant allele expressed] Heterozygous (Hybrid for character)
Mendel crossed two pea plants, one homozygous tall (TT) and another homozygous dwarf (tt).
He observed that all the F1 progeny plants were tall, like one of the parents, none were dwarf.
He made similar observations for the other pair of traits and found that F1 always resembled only
one of the parents, and that the trait of other parent was not seen in them.

2.2.2 Law of segregation or Law of purity of gametes:
1. This law states that both parental alleles (recessive and dominant) of F1 separate and are ex
pressed phenotypically in F2 generation. This law is universally applicable.
2. The F2 generation was produced by allowing F1 hybrid to self pollinate, to find out segregation or
separation. It was observed that both dominant and recessive plants appeared in 3 : 1 ratio. Thus, F2
progeny shows both parental forms.
3. On the basis of F2 generation, following observations can be made:
(i) An organism generally has two alleles for each character. These alleles may either be
similar or dissimilar. Organism with similar alleles of a pair is called pure or true breeding for
that character. If the organism contains dissimilar alleles of a pair, the organism is impure or
hybrid.
(ii) An organism receives one of the two alleles from the male gamete and the other from
the female gamete. The gametes fuse during fertilization and form a zygote. Zygote devel
ops into an organism.
(iii) Each gamete (male or female) has only one allele of the pair. Thus, each gamete is pure
for a trait. That is why this law is often called as Law of purity of gametes.
(iv) The fusion between male and female gametes to produce zygote is a random process.
4. The plants obtained in F2 generation show 3 (tall) : 1 (dwarf) phenotypic ratio. Of these three tall
plants, one is pure or homozygous dominant and the remaining two are heterozygous (tall in this
case). There is only one plant that shows recessive character (dwarf in this case). Dwarf is pure or
true breeding, being homozygous recessive.

Postulate IV :
1.This postulate was made on the basis of dihybrid cross or two genes interaction.
2.He postulated that inheritance of one character is independent of the inheritance of another
character.
3.On the basis of this postulate, Mendel proposed the “Law of independent assortment”.
Law of independent assortment :
1.The law of independent assortment states that when a cross is made between two individuals
different from each other in two or more characters, then the inheritance of one character is inde
pendent of the inheritance of another character.
2. Because of their independent assortment, besides the parental types, recombinants are also
obtained.
3. In dihybrid cross, these combinations are obtained in the ratio of 9 : 3 : 3 : 1. e.g., He crossed
homozygous dominant round and yellow seeded plant (RRYY) with homozygous recessive wrinkled
and green seeded (rryy) plant.
4. The F1 hybrids were all heterozygous, showing yellow and round seeded plants. This law is not
universally applicable.
5. If the phenotypic ratio of each pair of alleles (e.g., yellow and green colour of seed) is considered,
it shows 12(9 + 3) yellow seeded plants and 4(3 +1) green seeded plants.
6. This comes to 3 : 1 ratio; similar to one obtained in F2 generation of monohybrid cross showing
segregation.
7. The same is true for another pair of alleles involved, i.e., round and wrinkled seeded plants. So,
the results of each character are similar to the monohybrid ratio
2.2.3 Punnett square
1. Graphical representation to calculate the probability of all possible genotypes of offsprings in a

genetic cross.
2. Possible gametes are written on two sides, usually at top row and left columns, and combinations
are represented in boxes.
3. With the help of Punnet square, genotypic ratio in F2 generation can be found. From the above
given Punnet square, it is evident that genotypic ratio TT: Tt: tt is 1:2:1.
4. The ratio 1:2:1 or of TT: Tt: tt can be derived from binomial expression (ax + by)2.

2.3 Back Cross and Test Cross
Back cross
1. F1 hybrids are obtained by crossing two plants of parental generation.
2. Mendel devised a cross where F1 hybrid is crossed with anyone of the two parents, i.e.,
homozygous dominant and homozygous recessive.
3.Thus, there would be two possibilities:
(a) F1 hybrid (Tt) is crossed with homozygous dominant (TT)
(b) F1 hybrid (Tt) is crossed with homozygous recessive (tt)
4. Both these crosses collectively are called as back cross. If F1 is crossed with dominant parent, it is
called out cross.

Test Cross
1. Out of the two types of back crosses, a cross between F1 hybrid (Tt) and its homozygous recessive
parent (tt) is called test cross.
2. This cross is called test cross because it helps to find out whether the given dominant F1 pheno
type is homozygous or heterozygous.
3. A monohybrid test cross between F1 tall plant (Tt) and its homozygous recessive parent (tt) will
produce 50% heterozygous tall (Tt) and 50% homozygous recessive (tt), i.e., 1 : 1 ratio, for both
phenotype and genotype.
4. If a test cross with two characters, i.e., dihybrid test cross is made, it gives four types of plants in
1 : 1 : 1 : 1 ratio.
5. The phenotypes obtained are similar to those found in F2 generation of dihybrid cross.
6. Thus, a dihybrid test cross between F1 yellow and round seeded plant (YyRr) and its homozygous
recessive parent green and wrinkled (yyrr) would give following combinations:
1 yellow, round (YyRr) Parental combination 25%
1 yellow, wrinkled (Yyrr) Recombinants 25%
1 green, round (yyRr) Recombinants 25%
1 green, wrinkled (yyrr) Parental combination 25%
7. If this ratio is obtained, it would be confirmed that F1 hybrid with dominant phenotype is infact
heterozygous.
8. The parental combinations (50%) are equal to the frequency of recombinants (50%).
2.4 Trihybrid cross

1.Mendel crossed two pea plants which differed in 3 characters and observed independent
assortment of genes in them.
2.He crossed two pea plants pure in three traits viz., height of stem, form of seed and colour of
cotyledon of seed.
3.He crossed homozygous tall, round and yellow (TT RR YY) plant with dwarf, wrinkled and green (tt
rr yy).
4.All the F1 individuals produced were tall, round and yellow (Tt Rr Yy) and are called trihybrids.
5.On selfing trihybrids, F2 phenotypic ratio is 27 : 9 : 9 : 9 : 3 : 3 : 3 : 1. The ratio for a trihybrid test
cross is 1 : 1 : 1 : 1 : 1 : 1 : 1 : 1 .

3. ONE GENE INTERACTION (w.r.t. PostMendelian inheritance)
3.1 Incomplete dominance
1. After Mendelism a few cases were observed where F1 phenotype is

intermediate between dominant and recessive phenotypes.
2. The most common example of incomplete dominance is that of flower
colour in Mirabilis jalapa (Gulbansi or 4’O clock plant), studied by CarlCorrens.
3. Homozygous red (RR) flowered variety was crossed with white (rr) flowered variety.
4. F1 offspring had pink flowers.
5. Thus, here one allele is incompletely dominant over the other so that intermediate phenotype is
produced by F1 hybrid with respect to the parents.
6. This is called incomplete dominance.
7. Incomplete dominance for flower colour [Red(RR), Pink(Rr), White (rr)] is also known to occur in
Antirrhinum majus (Snapdragon or Dog flower).
8. The phenotypic ratio and genotypic ratio in F2 generation is identical in case of incomplete
dominance i.e., 1 : 2 : 1.
3.1.1 Explanation of the concept of dominance:

1. Every gene contains information to express a particular trait.
2. Diploid organisms have two copies of each gene, they are called alleles.
3. These two alleles may be identical or nonidentical.
4. One of them may be different due to some changes that it has undergone which modifies the
information that particular allele contains.
5. Theoretically, the modified allele could be responsible for production of
(i) The normal/less efficient enzyme, or
(ii) a nonfunctional enzyme, or
(iii) no enzyme at all
3.2 Multiple allelism
1. Mendel proposed that each gene has two contrasting forms, i.e., alleles.
2. But there are some genes which are having more than two alternative forms (allele).
3.Presence of more than two alleles for a gene is known as multiple allelism.
4. Multiple alleles are present on the same locus of homologous chromosome.
5. Multiple alleles can be detected only in a population.
6. A well known example to explain multiple alleles in human beings is ABO blood type.
7. Landsteiner discovered ABO system of blood groups. The fourth group AB was discovered by de
Castello and steini
8. Bernstein showed that these groups are controlled by 3 alleles IA, IB and IO/i.
9. These alleles are autosomal and follow Mendelian pattern of inher
10. The alleles IA and IB produce a slightly different form of the sugar while IO doesn’t produce any
sugar. Because humans are diploid organism, each person possesses any two of the three I gene
alleles.
11. IA and IB are completely dominant over IO, but when IA and IB are present together they both
express their own types of sugar thus, behaving as codominant alleles

12. Possible blood types of children from parents of various blood types.
13. Other examples of multiple alleles are coat colour in rabbit, eye colour in Drosophila and self
incompatibility in tobacco. Formula to find out number of genotypes for multiple allelism is n/2(n
+1) , where ‘n’ is number of alleles.
3.3 Codominance
1.In codominance, the genes of an allelomorphic pair are not related as dominant and recessive but
both of them express themselves equally in F1 hybrids.
2.These follow the law of segregation and F2 progeny exhibits 1 : 2 : 1 ratio. Heterozygous for sickle
cell anaemia (HbAHbS), AB and MN blood groups are examples of codominance of alleles.
3.4 Pleiotropic genes

1. The ability of a gene to have multiple phenotypic effects (as it influences a number of characters
simultaneously) is known as pleiotropy.
2. The gene having multiple phenotypic effects is called pleiotropic gene.
3.It is not essential that the traits are equally influenced. Sometimes, the effect of the gene is more
evident in case of one trait (major effect) and less evident in case of others (secondary
effect).
4. Occasionally, a number of related changes are caused by a gene.
5. They are together called syndrome.
6. Some common examples in humans are Cystic fibrosis, Marfan syndrome and Phenylketonuria,
while in Drosophila, a single gene influences the size of wings, character of balancers, position of
dorsal bristles, eye colour, shape of spermathecae, fertility and longevity.
7. In human beings pleiotropy is exhibited by sickle cell anaemia in heterozygous
condition(HbAHbS).

4. TWO GENES INTERACTION (w.r.t. PostMendelism)
1.Genes usually function or express themselves singly or individually.
2.But, many cases are known where two genes of the same allelic pair or genes of two or more
different allelic pairs influence one another.
3.This is called gene interaction.
4.1 Nonallelic genetic interactions

1. These are interactions between genes located on the same chromosome or on different but non
homologous chromosomes controlling a single phenotype to produce a different expression.
2. Each interaction is typical in itself and ratios obtained are different from those of the Mendelian
dihybrid ratios.
3. Some of these interactions of genes are explained here which fall under this category and deviate
from Mendel’s ratios.
4.1.1 Complementary genes

1. The complementary genes are two genes present on separate loci that interact together to
produce dominant phenotypic character, neither of them if present alone, can express itself. It
means that these genes are complementary to each other.
2.Bateson and Punnet have demonstrated that in sweet pea (Lathyrus odoratus) purple colour of
flowers develop as a result of interaction of two dominant genes C and P.
3.In the absence of dominant gene C or P or both, the flowers are white

4. Therefore, if a plant has ccPP, ccPp, CCpp or Ccpp genotypes, it bears only white flowers. Purple
flowers are formed in plants having genotype CCPP or CCPp or CcPP or CcPp.
5. From checker board, it is clear that 9 : 7 ratio between purple and white is a modification of
9 : 3 : 3 : 1 ratio.
4.1.2 Duplicate genes
1.If the dominant alleles of two gene loci produce the same phenotype, whether inherited together
or separately, the 9 : 3 : 3 : 1 ratio is modified into a 15 : 1 ratio.
Z PRACTICE 1
Q1. A geneticist interested in studying variations and patterns of inheritance in living beings
prefers to choose organisms for experiments with shorter life cycle. Provide a reason?
(Board 2015)
Q2. Mention any two contrasting traits with respect to seeds in pea plant that were studied by
Mendel? (Board 2014)
Q3. Name the contrasting podrelated traits studied by Mendel in pea plant experiment?
(Board 2011)
Q4. State a difference between a gene and an allele. (Board 2016)
Q5. On what basis is the skin colour in humans considered polygenic? (Board 2015)
Q6. Name the respective pattern of inheritance where F1 phenotype
(a) does not resemble either of the two parents and is in between the two.

(b) resembles only one of the two parents. (Board 2012)
Q7. Write the percentage of the pea plants that would be homozygous recessive in F2 genera
tion when tall F1 heterozygous pea plants are selfed? (Board 2012)
Q8. Differentiate between dominance and codominance. (Board 2011)
Q9. When a tall plant was selfpollinated, onefourth of the progeny were dwarf. Give the
genotype of the parent and dwarf progenies. (Board 2008)
Q10. When does a geneticist need to carry a test cross? How is it carried? (Board 2015)
Q11. Give an example of a gene responsible for multiple phenotypic expressions. What are such
genes called ? State the cause that is responsible for such an eect? (Board 2015)
Q12. How does the gene ‘I’ control ABO blood groups in humans? Write the eect the gene has on
the structure of red blood cells. (Board 2014)
Q13. With the help of one example, explain the phenomena of codominance and multiple
allelism in human population? (Board 2014)
Q14. A cross between a red ”ower bearing plant and a white ”ower bearing plant of Antirrhinum
produced all plants having pink ”owers. Work out a cross to explain how this is possible.
(Board 2013)
Q15. How does a testcross help in identifying the genotype of the organism?Explain.(Board 2010)
Q16. Human population shown variations in blood groups. Explain the genetic basis for this
variation seen in the population. (Board 2013)
Q17. (a) What is polygenic inheritance? Explain with the help of a suitable example.
(b) How are pleiotropic inheritance different form polygenic pattern of inheritance?
(Board 2015)
Q18. (a) Differentiate between dominance and codominance.
(b) Explain codominance taking an example of human blood groups in the population.
(Board 2013)
Q19. How is the phenotypic ratio of F2 generation in a dihybrid cross is different from monohy
brid cross? (Board 2012)
Q20. State the three principles of Mendel’s law of inheritance. (Board 2009)
5. CHROMOSOMAL THEORY OF INHERITANCE / PARALLELISM BETWEEN

CHROMOSOMES AND MENDELIAN FACTORS
1. Mendel also published his work on inheritance of characterin 1865 but for several reasons it
remain unrecognised till 1900 . reasons of these are
(a)Communication was not easy and at that work could not be widely published
(b)Secondly his concept of genes as stable and discrete units that controlled the expression
of traits and of the pair of allele which do not blend together was not accepted by his con
temporaries.
(c)Thirdly mendel approach of using mathematics to explain biological phenomena was
totally new and unacceptable to many of them.
2. In 1900 three scientist independently rediscovered mendels results on inheritance of character
(de vries,correns,von tscher mark)
3. Chromosomal theory of inheritance was proposed independently by Sutton and Boveri.
4. The two workers found a close similarity between the transmission of hereditary traits and
behaviour of chromosomes while passing from one generation to the next through the agency of
gametes.

5.Sutton and Boveri noted that the behaviour of chromosomes is parallel to the behaviour of Men
delian factors (Genes).
6. The salient features of chromosomal theory of inheritance are as follows :
(i) Like the hereditary traits the chromosomes retain their number, structure and individual
ity throughout the life of an organism and from generation to generation. The two neither
get lost nor mixed up. They behave as units.
(ii) Both chromosomes as well as genes occur in pairs in the somatic or diploid cells. The two
alleles of a gene pair are located on homologous sites on homologous chromosomes.
(iii) A gamete contains only one chromosome of a type and only one of the two alleles of a
trait.
(iv) The paired condition of both chromosomes as well as Mendelian factors is restored
during fertilization.
7. Homologous chromosomes synapse during meiosis and then separate or segregate independently
into different cells which establishes the quantitative basis for segregation and independent
assortment of hereditary factors.
8.Sutton united the knowledge of chromosomal segregation with Mendelian principles and called it
the chromosomal theory of inheritance.
9.Johannsen (1909) coined the term gene, for mendelian factor.
10.Following the synthesis of ideas, experimental verification of the chromosomal theory of inherit
ance by T.H. Morgan and his colleagues, led to discovery of the basis for the variations, that sexual
reproduction produced.
11.Hunt Morgan (18661945) is known as father of experimental genetics. He was awarded Nobel
Prize of physiology in 1933 for his pioneer work in experimental genetics.
5.1 Drosophila melanogaster as material for experimental Genetics
1.Fruit fly Drosophila is a tiny fly of about 2 mm size which is found over ripe fruits like mango and
banana.
2.The fly is actually attracted to yeast cells present on the surface of the ripe fruits. Drosophila is
more suitable than pea as experimental material because of following reasons :
(i) It can be easily reared and bred under laboratory conditions.

(ii) The fly has a short life span of about two weeks. The fruit fly can be bred throughout the
year so that numerous generations can be obtained in a single year instead of one as in case
of Pea.
(iii) A single mating produces hundreds of offsprings.
(iv) Females are easily distinguishable from the males by the larger body size and presence
of ovipositor (egg laying structure).
(v) The animal shows a number of externally visible and easily identifiable contrasting traits.
(vi) It has a smaller number (4 pairs) of morphologically distinct chromosomes.
(vii) Polytene chromosomes occur in the salivary glands of larva. Polytene chromosomes can
be used to study different types of chromosome aberrations.
(viii) It has heteromorphic (XY) sex chromosomes in the male. The transmission of
heteromorphic chromosomes can be easily studied from one generation to another.

6. LINKAGE (Exception to Law of Independent Assortment)
1. Morgan carried several dihybrid crosses in drosophila to study genes that were sex linked.These
crosses were similar to dihybrid crosses carried by mendel on peas
2. According to Mendel’s law of independent assortment, the gene controlling different characters
get assorted independent to each other.
3. It is correct if the genes are present on two different chromosomes, but if these genes are
present on same chromosome they may or may not show independent assortment.
4. If crossing over takes place between these two genes then the genes get segregated and they will
assort independent to each other. But if there is no crossing over between these two genes there is
no segregation, hence only parental combination will be found in gametes.
5. The tendency of some of the genes to inherit together (en block) is known as linkage.
6. In 1906, Bateson and Punnet crossed two varieties of Lathyrus odoratus (sweet pea) and observed
that the results do not agree with the Mendel’s law of independent assortment.
7. They formulated the hypothesis of coupling and repulsion to explain the unexpected F2 results of
dihybrid cross between a homozygous sweet pea having dominant alleles for blue flowers (BB) and
long pollen grains (LL) with another homozygous double recessive plant with red flowers and round
pollen grains (bbll)
8. Test cross ratio of 7 : 1 : 1 : 7 indicated that there was a tendency of the dominant alleles to remain
together. Similar was the case with recessive alleles
9. T.H. Morgan in 1910 showed that coupling and repulsion are two aspects of the same
phenomenon called linkage.
10. He suggested that the two genes present on the same chromosome, are in coupling phase and
when present on two different homologous chromosomes are in repulsion phase
11. Morgan carried out several dihybrid crosses in Drosophila to study genes that were sexlinked
and
(A) At first, he crossed yellow bodied (y) and white eyed (w) female with brown bodied (y+)
red eyed (w+) male which produced F1 with brown bodied red eyed female and yellow
bodied white eyed male. In F2 generation, obtained by intercrossing of F1 hybrids, the ratio
deviated significantly from expected. He found 98.7% to be parental and 1.3% as recombi
nants.
(B) In a second cross between white eyed and miniature winged female (wwmm) with wild
red eyed (w+) normal winged male (m+), the F1 generation included red eyed normal
winged female and white eyed miniature winged male. After intercrossing the F1 progeny,
he found 62.8% parental and 37.2% recombinants.
12. According to Morgan, the degree or the strength of linkage depends upon the distance between
the linked genes in the chromosome
13. Linkage, therefore, may be defined as “The tendency of two genes of the same chromosome to
remain together in the process of inheritance”

6.1 Kinds of Linkage
T.H. Morgan and his coworkers found two types of linkage :
(1) Complete linkage

1. Linkage of genes on a chromosome which is not altered and is inherited as such from generation
to generation without any cross over.
2. In this type of linkage, genes are closely associated and tend to remain together.
Example: Male Drosophila and female silk worm (Bombax mort).
3. 100% parental combinations indicated that the gene for grey body colour is completely linked
with long wings.
4. In this dihybrid, F2 phenotypic ratio is 3: 1 and test cross ratio is 1 : 1 (like a monohybrid). Another
example is inheritance of red eye and normal wing (PV/PV) with purple eye and vestigial wing
character (pv/pv).

(2) Incomplete linkage

1.The linked genes do not always stay together because homologous non sister chromatids may
exchange segments of varying length with one another during meiosis.
2.This is known as crossing over.
3.The linked genes may have chances of separation by crossing over, are called incompletely linked
genes and the phenomenon of their inheritance is called incomplete linkage.
4.It produces both parental and recombinant types in variable ratio.
5.Bateson and Punnet studied Lathyrus odoratus and defined coupling and repulsion of dominant
and recessive gene.
6.In cis arrangement or coupling condition, the incomplete linkage ratio was 7 : 1 : 1 : 7 (14parental
2recombinants).
7.In trans arrangement or repulsion case, the ratio was 1:7:7:1 (parental 14, recombinants = 2).
Example: In maize, incomplete linkage was observed by Hutchinson w.r.t seed coat colour and seed
shape. The results show that parental combination of alleles (CS/CS and cs/cs) appear in about 96%
cases. The other two are new combinations (Cs/cs and cS/cs) wh ich appear in
about 4% cases. Thus, in about 4% cases, crossing over has occurred between linked genes.

6.2 CROSSING OVER AND RECOMBINATION
1.Crossing over is a process that produces new combination of genes by interchanging of segments
between nonsister chromatids of homologous chromosomes.
2.The crossing over occurs in between the homologous chromosomes at four stranded or tetrad
stage during pachytene of prophase I of Meiosis I
3.When two genes are located very close to each other in chromosomes, hardly any crossing over
can be detected.
4.The linkage is broken down due to crossing over.
5.Crossing over will be relatively more frequent if the distance between two genes is more.
6.Frequency of crossing over can be determined cytologically by counting the number of chiasmata.
7.The details of the crossing over for two genes A and B and their alleles a and b on the homologous
chromosomes are shown in figure.
8.The crossing over as shown above results in the formation of following four types of cells :
.
Z PRACTICE 2
Q1. Name the stage of cell division where segregation of an independent pair of chromosome
occurs. (Board 2014)
Q2. Why did T.H.Morgan select Drosophila melanogaster to study sex linked genes for his lab
experiments ? (Board 2015)
Q3. Write the scienti“c name of the fruit ”y. Why did Morgan prefer to work with fruit”ies for his
experiments? State any three reasons.
Q4. Linkage and crossing over of genes are alternative of each other. Justify with the help of an
example. (Board 2014)
Q5. Write the Mendelian F2 phenotypic ratio in a dihybrid cross. State the law that he proposed
on the basis of this ratio. How is this law different from the law of segregation? (Board 2015)
Q6. Mendel published his work on inheritance of characters in 1865, but it remained
unrecognised till 1900. Give three reasons for the delay in accepting his work. (Board 2014)
Q7. How did Morgan explain linkage of genes? (Board 2011)
Q8. Workout a typical Mendelian dihybrid cross and state the law that he derived from it.
(Board 2014)
7. SEX DETERMINATION
7.1 Sex Chromosomes and Autosomes
1. Sex chromosomes are those chromosomes which determine the sex of the individual in dioecious
or unisexual organisms
2. The normal chromosomes, other than the sex chromosomes, of an individual are known as auto
somes. Sex chromosomes may be similar in one sex and dissimilar in the other.
3. The two conditions are respectively called homomorphic (= similar, e.g., XX, ZZ) and heteromor
phic (= dissimilar, e.g., XY, ZW).
4. Individuals having homomorphic sex chromosomes produce only one type of gametes.
5. They are, therefore, called homogametic (e.g., male birds, human female and Drosophila female).
6. Individuals having heteromorphic sex chromosomes produce two type of gametes (e.g., X and Y).
7. They are termed as heterogametic (e.g., female bird, human male and normal Drosophila male).
8. The factors which control the sex of an organism are under genetic control.
9. Various mechanism which led to sex determination can be classified into following four catego
ries:
1. Chromosomal mechanism of sex determination.
2. Non Allosomic genetic sex determination Fertility factor (plasmid) in bacteria.
3. Genic balance mechanism or X/A balance.
4. Environmental mechanism of sex determination.
7.1.1 Chromosomal mechanism of sex determination.

(a) According to this mechanism, there are certain chromosomes known as sex chromosome or
heterosome or idiochromosome, which are responsible for sex determination.

(b) This may be of following types:
(i) XX XY type

1.In most insects, plants and mammals including human beings, the females possess two
homomorphic (= isomorphic) sex chromosomes, i.e., XX.
2.The males contain two heteromorphic sex chromosomes, i.e., XY. The Ychromosome is often
shorter and heterochromatic (made of heterochromatin).
3.Despite differences in morphology, the Ychromosome pairs with Xchromosome at a certain
segment during meiosis.
4.It, therefore, carries a segment which is homologous with a segment of Xchromosome.
5.The remaining segment of Ychromosome is nonhomologous and carries only Ylinked or
holandric genes, e.g., Testis Determining Factor (TDF).
6.Human beings have 22 pairs of autosomes and one pair of sex chromosomes.
7.All the ova (haploid) formed by female are similar in their chromosome type (22 + X). Therefore,
females are homogametic.
8.The male gametes or sperms (haploid) produced by human males are of two types, (22 + X) and (22
+ Y).
9.Human males are therefore, heterogametic.
10.The two sexes produced in the progeny may have 50 : 50 ratio.
(ii) XX XO type

1. In roundworms, Dioscorea and some insects (true bugs, grasshoppers and cockroaches), the
females have two sex chromosomes, XX, while the males have only one sex chromosome, X.
2. There is no second sex chromosome.
3. Therefore, the males are designated as XO.
4. The females are homogametic because they produce only one type of eggs.

5. The males are heterogametic with half the male gametes carrying Xchromosome while the
other half being devoid of it.
6. The sex ratio produced in the progeny is 1 : 1.
(iii) ZW ZZ type (WZ WW Type)

1. In birds, fishes, silk worm, Fragaria elatior and some reptiles both the sexes possess two sex
chromosomes.
2. Unlike human beings, the females contain heteromorphic sex chromosomes while the males
have homomorphic sex chromosomes.
3. Because of having heteromorphic sex chromosomes, the females are heterogametic and
produce two types of eggs, (A + Z) and (A + W).
4. The male gametes or sperms are of one type (A+Z). 1 : 1 sex ratio is produced in the offspring.
(iv) ZO ZZ type

1. This type of sex determination occurs in butterflies, pigeon, ducks and moths.
2. It is exactly opposite the condition found in cockroaches and grasshoppers.
3. Here the females have odd sex chromosome while the males have two homomorphic sex
chromosomes.

4. The females are heterogametic.
5. They produce two types of eggs, with one sex chromosome (A + Z) and without the sex chromo
some (A + 0).
6. The males are homogametic, forming similar types of sperms (A + Z).
7. The two sexes are obtained in the progeny in 1 : 1 ratio as both the types of eggs are produced
in equal ratio.
7.1.2 NonAllosomic genetic sex determination:

Fertility factor of plasmid in bacteria determines sex.
7.1.3 Genic Balance or XlA Balance Theory of Sex Determination:
1. Given by C.B. Bridges. According to him, Y chromosome plays no role in sex determination of
Drosophila and it is the ratio between number of Xchromosome and set of autosomes which deter
mines the sex of fly.
2. It was concluded that X/A ratio of > 1.0 expresses super femaleness, 1.0 femaleness, below
1.0 and above 0.5 intersexes, 0.5 maleness and < 0.5 supermaleness.
Gynandromorphs : Gynandromorph is a sex mosaic (an individual with one half of the body
male and the other half female). These are common in Silk moth and Drosophila. Gynandromor
phism is developed due to accidental loss of Xchromosome from a 2A + XX cell during mitosis.
Gynander : A gynander may be male or female with patches of tissues of other sex on it.
7.1.4 Environmental Mechanism of Sex Determination

This mechanism is observed by F. Baltzer in Bonnelia viridis (marine worm).
1. In this organism, the sex is undifferentiated in larva.

2. The larva which settle down in mud, grow up into mature female while those which settle
down near the proboscis of female and become parasite develop into male.
3. It has been demonstrated that female secrete certain hormone which induces sex in larva.
Crepidula and Ophryortocha also show such mechanism.
7.2 SEX LINKED INHERITANCE
1. Sex linkage was discovered by Morgan, while working on inheritance of eye colour in Drosophila.
He made three types of crosses:
Cross 1 :
(i) The white eyed male (w) was crossed with red eyed (w+) female.
(ii) All the flies of F1 generation were found to be red eyed.
(iii) F1 flies were allowed to self breed.
(iv) In F2 generation, both the traits of red eye and white eye appeared in the ratio 3 : 1 showing that
white eye trait is recessive to red eye trait
Cross 2 :
(i) Red eyed females of F1 generation were crossed with white eyed male.
(ii) It is similar to test cross where hybrids are cross bred with recessive parents.
(iii) Morgan obtained red and white eyed female as well as male in equal proportions1 red eyed
female: 1 white eyed female: 1 red eyed male: 1 white eyed male.
(iv) The test cross indicated that white eye colour was not restricted to the male fly. Red eyed White
eyed hybrid female male.

Cross 3 :
White eyed females were crossed with red eyed males. It was a reciprocal of cross 1 and
should give the similar result as obtained by Mendel. However, Morgan obtained a surprising
result. All the males were white eyed while all the females were red eyed.
Taking all the crosses into consideration, Morgan came to the conclusion that eye colour gene
is linked to sex and is present on the Xchromosome.
(i) Xchromosome does not pass directly from one parent to the offspring of the same sex but
follows a crisscross inheritance, i.e., it is transferred from one sex to the offspring of the
opposite sex.
(ii) In other words, in crisscross inheritance a male transmits his traits to his grandsonthrough
daughter (Diagynic), while a female transmits the traits to her granddaughter
through her son (Diandric).

7.3 Sex Linkage in Human Beings

Colour blindness and haemophilia (Bleeder’s disease) are two common examples of sex
linked diseases in human beings.
7.3.1 Colour blindness.
1.This is a human disease which causes the loss of ability to differentiate between red colour and
green colour.
2.The gene for this redgreen colour blindness is present on X chromosome. Colour blindness is
recessive to normal vision.
3.If a colour blind man (XcY) marries a girl with normal vision (XX), the daughters would have normal
vision but would be carrier, while sons would also be normal (shown in cross(a))
4. If the carrier girl (heterozygous for colour blindness, XCX) now marries a colour blind man
XCY, the offspring would show 50% females and 50% males.
5. P Of the females, 50% would be carrier for colour blindness and the rest 50% would be colour
blind.
6. Of the males, 50% would have normal vision and the 50% would be colour blind (shown in
cross (b)).

8. MUTATION
1. Mutation is sudden, inheritable, discontinuous variation due to change in chromosomes and

genes.
2. The credit for starting scientific study of mutations goes to Thomas Hunt Morgan (1910).
3. He is known for his work on fruit fly, Drosophila melanogaster.
4. Different classifications of mutations are known, each based on a definite criterion or character.
(A) Spontaneous and induced mutations:

These are based upon the agency involved.
Spontaneous mutations: These are natural mutations. They have also been called back
ground mutations. Such mutations occur at a frequency of 1 × 10–5 in nature.
Induced mutations. These have been observed in organisms due to specific factors such as
radiations, ultra violet light or variety of chemicals. The agents which induce mutations on
their application, are called mutagens or mutagenic agents.
(B) On the basis of the type of cells in which mutations occur, there are other two types
of mutations:
(a) Somatic mutations. These mutations occur in somatic cells, i.e., body cells or the cells
other than germinal cells. The somatic mutations do not have any genetic or evolutionary
importance. This is because only the derivatives or the daughter cells formed from the
mutated cell will show mutation and not the whole organism.
(b) Germinal mutations. These mutations occur in the gametes or germ cells and are also
known as gametic mutations. Such mutations are heritable, and, therefore, are of great
evolutionary significance. If the mutations are dominant, these are expressed in the next
generation and if recessive, their phenotypic expressions remain suppressed.
(C) Forward and backward mutations:

(i) The commonest type of mutation, is the change from normal or wild type to new geno
type (recessive or dominant).
(ii) Such mutations are called forward mutations.

(iii) An organism which has undergone forward mutation, may again develop mutation
which restores the original wildtype phenotype.
(iv) Such reversions are known as backward mutations or reverse mutations.
(v) Mutations can occur at any stage during the life cycle of an organism.
5. Chromosomal mutation (Chromosomal Aberrations) :

The change in the chromosome morphology is called chromosomal aberration. Structural changes in
the chromosomes take place during meiosis. There are four types of chromosomal rearrangements:
(a) Deficiency :
Loss of a terminal segment of chromosome or Deletion It is due to loss of a intercalary part
of chromosome, e.g., CriduChat syndrome (short arm of chromosome 5 loses a part).
(b) Duplication:
Occurs due to addition of a part of chromosome so that a gene or set of genes is represented
twice, e.g., Barr eye in Drosophila.
(c) Translocation :
It involves shifting of a part of one chromosome to another nonhomologous chromosome.
So new recombinant chromosomes are formed, as this induces faulty pairing of
chromosomes during meiosis.
(d) Inversion:
Change in linear order of genes by rotation of a section of chromosome by 180°. Inversion
occurs frequently in Drosophila as a result of Xray irradiation.
6. Genomatic mutation or numerical changes in chromosome number :

It is of two types: (A) Aneuploidy and (B) Euploidy:
(A) Aneuploidy:
In aneuploidy, any change in number of chromosomes in an organism would be different
than the multiple of basic set of chromosomes. It results due to failure of segregation of
chromatids during cell division cycle. There would be following two possibilities:
(a) Hypoploidy:
This arises due to loss of one or more chromosomes or pairs of chromosome. Thus, the
following conditions are likely to be produced.
(i) Monosomy (2n 1) : It is the result of loss of one chromosome for a homologous
pair. Its other variant is double monosomy, i.e., (2n 1 1).
(ii) Nullisomy (2n 2) : It is the result of loss of a complete homologous pair of chro
mosome.
(b) Hyperploidy: This arises due to addition of one or more chromosomes or pairls of
chromosome. The following conditions are thus likely to be produced :
(i) Trisomy (2n + 1) : In this type, a single chromosome is added to the chromosome
set. The trisomics were obtained for the first time in Datura stramonium (Jimson
weed) by A.F.Blakeslee and his coworkers (1924). In human beings, Mongolism or
Down’s syndrome is due to trisomy of chromosome 21 (2n + 1 or 46 + 1, i.e., chromo
some 21 is present 3 times).
Others are Patau syndrome (due to trisomy of 13th) and Edward’s syndrome (due to
trisomy of 18th chromosome).
(ii) Tetrasomy (2n + 2) : It is the result of addition of a complete homologous pair of
chromosomes (i.e., 2chromosomes).

(B) Euploidy:
In euploidy, any change in the number of chromosomes is the multiple of the number of
chromosomes in a basic set or it occurs due to variation in one or more haploid sets of
chromosomes. Accordingly, these may be haploid and polyploid.
(a) Haploidy : One set of chromosomes. Haploids are better for mutation experimental
studies, because all mutations either dominant or recessive can express immediately in
them, as there is only one allele of each gene present in each cell.
(b) Polyploidy: Failure of cytokines is after telophase stage of cell division results in an
increase in a whole set of chromosomes in an organism and this phenomenon is known as
polyploidy.
Z PRACTICE 3
Q1. A male honeybee has 16 chromosomes whereas its female has 32 chromosomes. Give one
reason. (Board 2016)
Q2. Identify and write the correct statement :
(a) Drosophila male has one X and one Y chromosome.
(b) Drosophila male has two X chromosomes. (Board 2014)
Q3. Differentiate between male and female heterogamety. (Board 2015)
Q4. Explain why it is scientifically incorrect to blame the mother for bearing female child.
(Board 2013)
Q5. The male fruit fly and female fowl are heterogametic while the female fruit ”y and the male
fowl are homogametic. Why are they called so? (Board 2008)
Q6. Explain the mechanism of sex determination in insects like Drosophila and grasshopper.
(Board 2010)
Q7. How is sex determined in humans ?
Q8. Differentiate between male heterogamety and female heterogamety with the help of one
example of each.
Q9. Name the event during cell divison cycle that results in the gain or loss of
chromosome. (Board 2011)
Q10. cell division involved in gamete formation is not of the same type in different organisms.
Justify. (Board 2011)
9. GENETIC DISORDERS
9.1 Pedigree Analysis
1. A record of inheritance of certain genetic traits for two or more generations presented in the form
of a diagram or family tree is called pedigree.
2. Parents are shown by horizontal line while their offsprings are connected to it by a vertical line.
3. The offsprings are also shown in the form of a horizontal line below the parents and numbered
with arabic numerals.
4. Pedigree analysis is study of pedigree for the transmission of particular trait and finding the
possibility of absence or presence of that trait in homozygous or heterozygous state in a particular
individual.
5. It is useful for the genetic counsellors to advise intending couples about the possibility of having
children with genetic defects like haemophilia, colour blindness, alkaptonuria, phenylketonuria,

thalassaemia, sickle cell anaemia (recessive traits), brachydactyly, myotonic dystrophy and
polydactyly (dominant traits).
6.Pedigree analysis indicates that Mendel’s principles are also applicable to human genetics with
some modifications found out later, like quantitative inheritance, sex linked characters and other
linkages.
9.2 Mendelian disorders
(a) SickleCell Anaemia

1. It is an autosomal recessive disorder that can be transmitted from parents to offspring when both
the partners are carrier for the gene (heterozygous)
2. Pair of alleles HbA and HbS controls the expression of this disease.
HbA and HbA Normal
HbA and HbS Carrier of disease
HbS and HbS Diseased
3. Cause of the disease “ Change in gene causes the replacement of GAG by GUG leading to the
substitution of Glu by Val at sixth position of beta globin chain of haemoglobin.
4. The mutant haemoglobin so formed polymerises at low oxygen tension, resulting in change in
shape of RBC to sicklelike.
(b) Phenylketonuria
1. Recessive autosomal disorder (Chromosome 12) related to phenylalanine metabolism to tyrosine.
This disorder is due to absence of a liver enzyme called phenylalanine hydroxylase.
2.Due to lack of this enzyme, phenylalanine follows another pathway and gets converted into
phenylpyruvic acid. This phenyl pyruvic acid upon accumulation in joints causes arthritis and if it hits
the brain, then it causes mental retardation known as phenyl pyruvic idiocy
3. These are also excreted through urine because of poor absorption by kidney.
(c) Thalassaemia
1. It is recessive autosomal disease caused due to reduced synthesis of a or b polypeptide of
haemoglobin. bthalassaemia is a major problem, individuals suffering from major thalassaemia
often die before ten years of age.
Other Mendelian disorders :
(i) Alkaptonuria (Garrod, 1908) Due to deficiency of oxidase enzyme.

(ii) Albinism (Chromosome 11) Absence of tyrosinase
(iii) TaySach’s disease (Chromosome 15) Absence of hexosaminidase B.
9.3 Chromosomal disorders
1. Total number of chromosomes in humans = 46 (23 pairs)

2. Total 23 pairs = Autosomes (22 pairs) + Sex chromosomes (1 pair)
3. Monosomy Lack of any one pair of chromosomes
4. Trisomy Inclusion of an additional copy of chromosome
5. Aneuploidy Loss or gain of chromosomes due to the failure of segregation of chromatids during
cell division.
A. Autosomal abnormalities (Due to mutation in body chromosome)

(i) Down’s Syndrome It occurs due to trisomy of 21st chromosome. The affected individual is
short statured with small round head, furrowed tongue and partially open mouth. Palm is
broad with characteristic palm crease and mental retardation. Physical and psychomotor

development is retarded.
(ii) Edward’s syndrome Trisomy of 18th chromosome

(iii) Patau’s syndrome Trisomy of 13th chromosome
B. Allosomal or Sex Chromosomal Disorder

(i) Klinefelter’s Syndrome It occurs due to the trisomy of Xchromosome in male, resulting
into a karyotype of 47, (44 + XXY). Individuals have long legs, sparse body hair, small pros
trate gland, small testes, reduced mental intelligence and enlarged breasts
(Gynaecomastia). Such individuals are sterile.
(ii) Turner’s Syndrome It is caused due to absence of one of the Xchromosome in female
i.e. 45 with chromosome complement 44 + XO. Such females are sterile with undeveloped
breast, short stature, reduced ovaries & absence of menstrual cycle.
Some Important Definitions

1. The subject that deals with the inheritance as well as the variation of characters from parents to
offspring is called genetics.
2. Inheritance is the process by which characters are passed on from parent to progeny.
3. Variation is the degree by which progeny differ from their parents.
4. A true breeding line is one that, having undergone continuous selfing, shows the stable trait
inheritance and expression for several generations
5. Genes which code for a pair of contrasting traits are known as alleles.
6. A cross between F1 hybrid (Tt) and its homozygous recessive parent (tt) is called test cross.
7. If F1 phenotype does not resemble either of the two parents and is in between the two, it is called
incomplete dominance.
8. Presence of more than two alleles for a gene is known as multiple allelism.
Z PRACTICE 4
Q1. Give an example of a human disorder that is caused due to a single gene mutation.
(Board 2016)
Q2. State the chromosomal defect in individuals with Turner’s syndrome. (Board 2015)
Q3. A human being suering from Down’s syndrome shows trisomy of 21st chromosome. Mention
the cause of this chromosomal abnormality.
Q4. The son of a haemophilic man may not get this genetic disorder. Mention the reason.
(Board 2010)
Q5. Why is the possibility of a human female suering from haemophilia rare ? Explain.
(Board 2014)
Q6. A couple with normal vision bear a colourblind child. Work out a cross to show how it is
possible and mention the sex of the aected child. (Board 2016)
Q7. Why is pedigree analysis done in the study of human genetics? State the conclusions that
can be drawn from it. (Board 2014)
Q8. Name a blood related autosomal Mendelian disorder. Why is it called Mendelian disorder?
How is the disorder tansmitted from parents to osprings? (Board 2014)
Q9. Explain the causes, inheritance pattern and symptoms of any two Mendelian genetic disord
ers. (Board 2010)
Q10. Name a disorder, give the karyotype and write the symptoms a human suer from as a result
of an additional Xchromosome. (Board 2011)

Molecular Basis of Inheritance 6/ 1
MOLECULAR BASIS OF INHERITANCE

1. THE DNA
• DNA is a long polymer of deoxyribonucleotides.

• The length of DNA is usually defined as number of nucleotides or a pair of nucleotide referred to
as base pairs present in it.
• This also is the characteristic of an organism.
• Few examples are sited below :
1.1 Chemical Structure of DNA Polynucleotide

• The basic unit of DNA is a nucleotide which has three components a nitrogenous base, a pentose
sugar (deoxyribose), and a phosphate group.
• There are two types of nitrogenous bases ‘Purines’ (Adenine and Guanine), and ‘Pyrimidines’
(Cytosine and Thymine).
• Cytosine is common for both DNA and RNA and Thymine is present in DNA.
• Uracil is present in RNA at the place of Thymine.
• A nitrogenous base is linked to the pentose sugar through a ‘Nglycosidic linkage’ to form a
nucleoside, such as adenosine or deoxyadenosine, guanosine or deoxyguanosine, cytidine or
deoxycytidine and deoxythymidine.
• When a phosphate group is linked to 5'OH of a nucleoside through phosphoester linkage, a
corresponding nucleotide (or deoxynucleotide depending upon the type of sugar present) is
formed.
• Two nucleotides are linked through 3'5' phosphodiester linkage to form a dinucleotide.
• More nucleotides can be joined in such a manner to form a polynucleotide chain.
• A polymer thus formed, has a free phosphate moiety at 5'end of sugar, which is referred to as
5' end of polynucleotide chain.
• Similarly, at the other end of the polymer the sugar has a free 3'OH group which is referred to as
3'end of the polynucleotide chain.
• The backbone in a polynucleotide chain is formed due to sugar and phosphates (phosphodiester
bond) nitrogenous bases linked to sugar moiet projects from the backbone
• In RNA, every nucleotide residue has an additional OH group present at 2' position in the ribose.
• Also, in RNA the uracil is found at the place of thymine (Smethyl uracil, another chemical name
for thymine).
1.1.1 DOUBLE HELIX MODEL FOR THE STRUCTURE OF DNA

• In 1953, James Watson and Francis Crick based on the Xray diffraction data produced by Maurice
Wilkins and Rosalind Franklin, proposed Double Helix model for the structure of DNA
• One of the hallmarks of their proposition was base pairing between the two strands of poly
nucleotide chain.
• However, this proposition was also based on the observation of Erwin Chargaff –that for a double
stranded DNA, the ratios between Adenine and Thymine and Guanine and Cytosine are constant and
equal.

• Chargaff (1950) made observations on the bases and other contents of DNA. These observations or
generalizations are called ‘Chargaff’s rules’.
(i) Purine and pyrimidine base pairs are in equal amount, i.e., adenine + guanine = thymine +
cytosine.
(ii) Molar amount of purine (adenine) is always equal to the molar amount of pyrimidine
(thymine). Similarly, guanine is equalled by cytosine.
(iii) Sugar deoxyribose and phosphate occur in equimolar proportions.
(iv) The ratio of A + T/G + C is constant for a species (Base ratio, e.g., 1.52 for human and 0.93 for
E.coli
• The base pairing is a very unique property of the polynucleotide chains.

• They are said to be complementary to each other, and therefore if the sequence of bases in one
strand is known then the sequence in other strand can be predicted.
• Thus, if one DNA strand has A, the other would have T and if one has G, the other, would have C.
• Therefore, if the base sequence of one strand is CAT TAG GAC, the base sequence of other strand
would be GTA ATC CTG.
• Hence, the two polynucleotide strands are called complementary to one another.
• Also, if each strand from a DNA or parental DNA acts as a template for synthesis of a new strand,
the two double stranded DNA or daughter DNA produced would be identical to the parental DNA
molecule.
1.1.2 SALIENT FEATURES OF DNA DOUBLE HELIX

• It is made of two polynucleotide chains, where the backbone is constituted by sugarphosphate,
and the bases project inside.
• The two chains have antiparallel polarity. It means, if one chain has the polarity 5’P > 3’OH, the
other has 3’OH > 5’P.
• The bases in two strands are paired through hydrogen bond (Hbonds), forming base pairs(bp).
Adenine forms two hydrogen bonds with Thymine from opposite strand and viceversa. Guanine is
bonded with Cytosine with three Hbonds. As a result, always a purine comes opposite to a
pyrimidine. This generates approximately uniform distance between the two strands of the helix.
• The plane of one base pair stacks over the other in double helix. This, in addition to Hbonds,
confers stability to the helical structure.
• The two chains are coiled in a righthanded fashion. The pitch of the helix is 3.4 nm and there are
roughly 10 bp in each turn. Consequently, the distance between base pairs in a helix is approxi
mately equal to 0.34 nm. It is because of specific base pairing with a purine lying opposite to
pyrimidine which makes two chains 2 nm thick
• Francis crick proposed the central dogma in molecular biology which states that genetic inform
ation flows from DNARNAProtein
1.2 Packaging of DNA Helix

• The average distance between two adjacent base pairs is 0.34 nm (0.34 × 109 m or 3.4 Å).
• Length of DNA for a human diploid cell is 6.6 × 109 bp × 0.34 × 109 m/bp = 2.2 m.
• This length is far greater than the dimension of a typical nucleus (approximately 10–6 m).
• The number of base pairs in Escherichia coli is 4.6 × 106. The total length is 1.36 mm.
• The long sized DNA is accommodated in small area (about 1 µm in E. coli) only through packing or
compaction.
• DNA is acidic due to presence of large number of phosphate group.
• Compaction occurs by folding and attachment of DNA with basic proteins, polyamine In prokary
otes and histone in eukaryotes.

1.2.1 DNA PACKAGING IN PROKARYOTES

• DNA is found in cytoplasm in supercoiled state.
• The coils are maintained by non histone basic protein like polyamines.
• RNA may also be involved. This compact structure of DNA is called nucleoid or genophore.
1.2.2 DNA PACKAGING IN EUKARYOTES

• It is carried out with the help of lysine and ariginine rich basic proteins called ‘histones’. Histones
are set of positively charged basic proteins
• The unit of compaction is called ‘nucleosome’.
• There are five types of histone proteins H1, H2A, H2B, H3 and H4.
• Four of them occur in pairs to produce histone octamer (2 copies of each H2A, H2B, H3 and H4),
called ‘nu body’ or ‘core of nucleosome’.
• Their positively charged ends are directed outside.
• They attract negatively charged strands of DNA.
• About 200 bp of DNA is wrapped over nu body to complete about 1¾ turns.
• This forms a nucleosome of size 110 × 60 Å (11 × 6 nm).
• DNA present between two adjacent nucleosome is called ‘linker DNA’.
• It is attached to H1 histone protein.
• Length of linker DNA varies from species to species.
• Nucleosome chain gives a beads on string appearance under electron microscope.
• The nucleosomes further coils to form solenoid.
• It has diameter of 30 nm as found in chromatin.
• The beadsonstring structure in chromatin is packaged to form chromatin fibres that are further
coiled and condensed at metaphase stage of cell division to form chromosomes.
• The packaging at higher level requires additional set of proteins (acidic) that collectively are
referred to as ‘nonhistone chromosomal (NHC) proteins’.

2. THE SEARCH FOR GENETIC MATERIAL
2.1 The Experiments to Prove that DNA is Genetic Material
2.1.1 EVIDENCE FROM BACTERIAL TRANSFORMATION

• The transformation experiments, conducted by Frederick Griffith in 1928, are of great importance
in establishing the nature of genetic material.
• He used two strains of bacterium Diplococcus or Streptococcus pneumoniae or Pneumococcus i.e.,
SIII and RII.
(a) Smooth (S) or capsulated type which have a mucous coat and produce shiny colonies. These
bacteria are virulent and cause pneumonia.
(b) Rough (R) or noncapsulated type in which mucous coat is absent and produce rough colonies.
These bacteria are nonvirulent and do not cause pneumonia.
The experiment can be described in following four steps:

(i) Smooth type bacteria were injected into mice. The mice died as a result of pneumonia caused by
bacteria.
S strain Injected into mice Mice died
(ii) Rough type bacteria were injected into mice. The mice lived and pneumonia did not occur.
R strain Injected into mice Mice lived
(iii) Smooth type bacteria which normally cause disease were heat killed and then injected into the
mice. The mice lived and pneumonia was not caused.
S strain (heat killed) Injected into mice Mice lived
(iv) Rough type bacteria (living) and smooth type heatkilled bacteria (both known not to cause
disease) were injected together into mice. The mice died due to pneumonia and virulent
smooth type living bacteria could also be recovered from their dead bodies.
• He concluded from fourth step of the experiment that some rough bacteria (nonvirulent) were
transformed into smooth type of bacteria (virulent).
• This occurred perhaps due to absorption of some transforming substance by rough type bacteria
from heat killed smooth type bacteria.
• This transforming substance from smooth type bacteria caused the synthesis of capsule which
resulted in production of pneumonia and death of mice.
• Therefore, transforming principle appears to control genetic characters (for example, capsule as in
this case). However, biochemical nature of genetic material was not defined from his experiments.

2.1.2 BIOCHEMICAL CHARACTERISATION OF TRANSFORMING PRINCIPLE
• Later, Avery, Macleod and McCarty (1944) repeated the experiment invitro to identify the bio
chemical nature of transforming substance. They proved that this substance is DNA.
• They purified biochemicals from the heat killed Scells to see which one could transform live
Rcells into S cells
• They discovered that DNA alone from Sbacteria causes R bacteria to become transformed
• They also discovered that protein digesting enzyme and RNase did not affect transformation but
digestion with DNase inhibit transformation suggesting that DNA caused transformation hence it is
the genetic material.
2.1.3 EVIDENCE FROM EXPERIMENTS WITH BACTERIOPHAGE

• T2 bacteriophage is a virus that infects bacterium Escherichia coli and multiplies inside it.
• T2 phage is made up of DNA and protein coat.
• Thus, it is the most suitable material to determine whether DNA or protein contains information
for the production of new virus (phage) particles.
• Hershey and Chase (1952) demonstrated that only DNA of the phage enters the bacterial cell and,
therefore, contains necessary genetic information for the assembly of new phage particle.
• The functions of DNA and proteins could be found out by labelling them with radioactive tracers.
• DNA contains phosphorus but not sulphur.
• Therefore, phage DNA was labelled with P32 by growing bacteria infected with phages in culture
medium containing 32P.
• Similarly, protein of phage contains sulphur but no phosphorus.
• Thus, the phage protein coat was labelled with S35 by growing bacteria infected with phages in
another culture medium containing 35S.
• After the formation of labelled phages. Three steps were followed, i.e., infection, blending,
centrifugation
(a) Infection: Both types of labelled phages were allowed to infect normally cultured bacteria in
separate experiments.
(b) Blending: These bacterial cells were agitated in a blender to break the contact between virus and
bacteria.
(c) Centrifugation: The virus particles were separated from the bacteria by spinning them in a
centrifuge
• After the centrifugation the bacterial cells showed the presence of radioactive DNA labelled with
P32 while radioactive protein labelled with S35 appeared on the outside of bacteria cells (i.e., in
the medium).
• Labelled DNA was also found in the next generation of phage.
• This clearly showed that only DNA enters the bacterial host and not the protein.
• DNA, therefore, is the infective part of virus and also carries all the genetic information.
• This provided the unequivocal proof that DNA is the genetic material
2.2 Properties of Genetic Material

1. Following are the properties and functions which should be fulfilled by a substance if it is to
qualify as genetic material.
(a) It should chemically and structurally be stable.
(b) The genetic material should be able to transmit faithfully to the next generation, as Mendelian
characters.
(c) The genetic material should also be capable of undergoing mutations.
(d) The genetic material should be able to generate its own kind (replication).

2. This can be concluded after examining the above written qualities, that DNA being more stable is
preferred as genetic material, as
(a) Free 2?OH of RNA makes it more labile and easily degradable. Therefore, DNA in comparison is
more stable.
(b) Presence of thymine at the place of uracil also confers additional stability to DNA.
(c) RNA being unstable, mutates at a faster rate.
3. RNA WORLD
• RNA was the first genetic material.

• There are evidences to suggest that essential life processes, such as metabolism, translation,
splicing, etc. evolved around RNA.
• RNA used to act as a genetic material as well as a Catalyst.
• There are some important biochemical reactions in systems that are catalyzed by RNA catalysts and
not by proteinaceous enzymes (e.g., splicing).
• RNA being a catalyst was reactive and hence unstable .
• Therefore, DNA has evolved from RNA with chemical modifications that make it more stable.
• DNA being double stranded and having complementary strand further resists changes by evolving
a process of repair.
• RNA is an adapter, structural molecule and in some cases catalytic.
• Thus, RNA is better material for transmission of information
4. REPLICATION OF DNA
• The WatsonCrick model of DNA immediately suggested that the two strands of DNA would
separate.
• Each separated or parent strand serves as a template (model or guide) for the formation of a new
but complementary strand.
• Thus, the new or daughter DNA molecules formed would be made of one old or parental strand
and another newly formed complementary strand.
• This method of formation of new daughter DNA molecules is called ‘semiconservative method of
replication’.
4.1 Experiment suggesting that DNA replication is SemiConservative

(a) Messelson and Stahl (1958) conducted experiments using heavy nitrogen (15N) to determine
whether the concept of semiconservative replication is correct.
(b) They used Cesium chloride (CsCl) gradient centrifugation technique for this purpose.
(c) A dense solution of CsCl, on centrifugation, forms density gradientbands of a solution of lower
density at the top that increases gradually towards bottom with highest density.
(d) If DNAs of different densities are mixed with CsCl solution, these would separate from one
another and would form a definite density band in the gradient along with CsCl solution.
(e) This nonradioactive or heavy DNA (incorporating 15N) had more density than DNA with normal
nitrogen (14N).
(f) The bacteria were then transferred to culture medium containing only normal nitrogen
(14NH4Cl). The change in density was observed by taking DNA samples periodically
(g) If DNA replicates semiconservatively, then each heavy (15N) DNA strands should separate and
each separated strand should acquire a light (14N) partner after one round of replication.
(h) This should be a hybrid DNA made of two strands, i.e., 14N–15N.
(i) Meselson and Stahl observed that such DNA was actually half dense indicating the presence of
hybrid DNA molecules.

(j) After second round of replication there would be four DNA molecules.
(k) Of these, two molecules would be hybrid (14N–15N) showing half density as earlier and the
remaining two molecules would be made of light strands (14N–14N) Thus, after second
generation, the same half dense band (14N–15N) was seen but the density of light bands (14N–
14N) increased.
(l) Messelson and Stahl’s work as such provided confirmation of WatsonCrick model of DNA and its
semiconservative replication
4.2 Mechanism of DNA Replication

DNA replication involves following four major steps:
(1) Initiation of DNA replication
(2) Unwinding of helix
(3) Formation of primer strand
(4) Elongation of new strand
4.2.1 INITIATION OF REPLICATION

• Replication of DNA always begins at a definite site called origin of replication.
• Prokaryotes have single origin of replication.
• It is called oric in E.coli.
• On the other hand, eukaryotes have several thousand origins of replication.
4.2.2 UNWINDING OF HELIX

• DNA replication requires that a double helical parental molecule is unwound so that its internal
bases are available to the replication enzymes.
• Unwinding is brought about by enzyme helicase which is ATP dependent.
• Unwinding of DNA molecule into two strands results in the formation of Yshaped structure, called
‘replication fork’.
• These exposed single strands are stabilised by a protein known as ‘SingleStrand Binding Protein’
(SSB).
• Due to unwinding, a supercoiling develops on the end of DNA opposite to replicating fork.
• This tension is released by enzyme topoisomerase
4.2.3 FORMATION OF PRIMER STRAND

• A new strand is to be synthesized opposite to the parental strands DNA polymerase III is the true
replicase in E. coli, which is incapable of initiating DNA synthesis, i.e., it is unable to deposit the
first nucleotide in a daughter (new) strand without the Primer.
• Another enzyme, known as primase, strand synthesizes a short primer strand of RNA.
• The primer strand then serves as a stepping stone (to start errorless replication).
• Once the initiation of DNA synthesis is completed, this primer RNA strand is then removed
enzymatically.
4.2.4 ELONGATION OF NEW STRAND

• Once the primer strand is formed, DNA replication occurs in 5’3’ direction, i.e., during synthesis of
a new strand, deoxyribonucleoside triphosphates (dATP. dGTP, dTTP, dCTP) are added only to the
free 3’OH end.
• Thus, the nucleotide at 3’ end is always the most recently added nucleotide to the chain.
• As the DNA replication proceeds on the two parental strands, synthesis of daughter or new strand
occurs continuously along the parent 3'5' strand
• It is now known as ‘leading daughter strand’.
• Synthesis of another daughter strand along the other parental strand, however, takes place in the
form of short pieces.

• This is called ‘lagging daughter strand’. These short pieces of DNA are known as
‘Okazakifragments’, these segments are about 1,0002,000 nucleotides long in prokaryotes.
• Hense, DNA replication is semidiscontinuous. Discontinuous pieces of the lagging strand are
joined together by the enzyme DNA ligase (after removal of primer) to form continuous daughter
strand.
• Thus two DNA molecules are now formed from one molecule.
• DNA polymerase is the most important enzyme of DNA replication.
• DNA polymerases are of three types i.e. DNA polymerase I, II and III in prokaryotes.
5. STRUCTURE OF RNA (Ribose Nucleic Acid)
RNA or ribonucleic acid is present in all the living cells. It is laevo rotatory and is responsible for
learning and memory. It is found in the cytoplasm as well as nucleus. Description of types
and structure of RNA is given below.
Types of RNA
• In bacteria, there are three major types of RNAs: mRNA (messenger RNA), tRNA (transfer RNA),
and rRNA (ribosomal RNA).
• All three RNAs are needed to synthesise a protein in a cell.
• The mRNA provides the template, tRNA brings amino acids and reads the genetic code, and rRNAs
play structural and catalytic role during translation.
• RNA is generally involve in protein synthesis but in majority of plant viruses, it serves as a genetic
material.
Therefore, there are two major types of RNA(A) genetic RNA and (B) nongenetic RNA.
5.1 Genetic RNA

FraenkelConrat showed that RNA present in TMV (Tobacco Mosaic Virus) is a genetic material. Since
then, it is established that RNA acts as a genetic material in most plant viruses.
5.2 NonGenetic RNA.

This type of RNA is commonly present in cells where DNA is genetic material. Nongenetic RNA is
synthesized on DNA template. It is of following three major types:
5.2.1 MESSENGER RNA (mRNA)

• It was reported by Jacob and Monad.
• It carries genetic information present in DNA, so is called ‘working copy’.
• mRNA constitutes about 35% of the total RNA present in the cell.
• The molecular weight varies from 25,000 to 1,00,000.
• Structure of eukaryotic mRNA. It is monocistronic in nature and has a message to produce on
polypeptide only. They are metabolically stable and their life varies from few hours to days.
• UTR (Untranslated Region) They are sequences of RNA before start or initiation codon and after
stop or termination codon. They are not translated. They are transcribed as part of same transcript
as the coding region. Such UTRs provide stability to mRNA and also increase translational effi
ciency.
5.2.2 RIBOSOMAL RNA (rRNA)

• It was reported by Kuntz. It is most stable type of RNA and is a constituent of ribosomes. It forms
about 80% of the total cellular RNA.

• In eukaryotes, 4 types of rRNA’s found are 28 S, 18 S, 5.85 S and 5 S whereas, in prokaryotes three
types of rRNA’s found are 23 S, 16 S and 5 S. It is synthesised by genes present on DNA of several
chromosomes found within a region known as nucleolar organiser.
5.2.3 TRANSFER RNA (tRNA)

• The existence of tRNA was postulated by Crick. It is also known as ‘soluble RNA’ (sRNA).
• These are the smallest molecules which carry amino acids to the site of protein synthesis.
• These constitute about 15% of the total cellular RNA.
• It acts as an intermediate molecule between triplet code of mRNA and amino acid sequence of
polypeptide chain. All tRNA’s have almost same basic structure. There are over 60 types of tRNA.
• Structure of tRNA : Clover leaf model of tRNA is a 2dimensional model suggested by Holley et.al.
tRNA molecule appears like a clover leaf, being folded with three or more double helical regions
(stem), having loops also.
• There are three loops in tRNA

(i) Amino acyl synthetase binding loop, also called ‘DHU loop’.
(ii) Ribosomal binding loop with 7 unpaired bases. It is also called ‘TuC loop’.
(iii) ‘Anticodon loop’ with 7 unpaired bases. Out of the 7 bases in anticodon loop, 3 bases acts as
anticodon for a particular triplet codon present on mRNA
6. MECHANISM OF PROTEIN SYNTHESIS
The process of protein synthesis consists of two major steps:

(A) Transcription or synthesis of mRNA on DNA
(B) Translation or synthesis of proteins along mRNA
6.1 Transcription
The transfer of genetic information from DNA to mRNA is known as ‘transcription’. The segment of
DNA that takes part In transcription is called transcription unit. It has three components:
(i) A Promoter (ii) The Structural gene (iii) A Terminator

6.1.1 PROMOTER
• Its sequences are present upstream (5' end) of the structural genes of a transcription unit
• The binding sites for RNA polymerase lie within the promoter sequence.
• Certain short sequences within the promoter sites are conserved. In prokaryotes, 10 bp upstream
from, the start point lies a conserved sequence described as –10 sequence TATAAT or ‘Pribnow
box’ and –35 sequence TTGACA as ‘Recognition Sequence’.
6.1.2 STRUCTURAL GENE

• It is part of that DNA strand which has 3' ? 5' polarity, as transcription occur in 5'3' direction.
• This strand of DNA that direct the synthesis of mRNA is called ‘template strand’.
• The complementary strand is called ‘nontemplate’ or ‘coding strand’, it is identical in base
sequence to RNA transcribed from the gene, only with U in place of T.
6.1.3 TERMINATOR
It is present at 3' end of coding strand and defines the end of the process of transcription
6.2 Mechanism of Transcription

1. RNA polymerase binds to promoter region of the DNA and the process of transcription begins.
2. RNA polymerase moves along DNA helix and unwinds it.
3. One of the two strands of DNA serves as a template for RNA synthesis.
4. This results in the formation of complementary RNA strand.
5. It is formed at a rate of about 40 to 50 nucleotides per second.
6. RNA synthesis comes to a stop when RNA polymerase reaches the terminator sequence.
7. The transcription enzyme, i.e., RNA polymerase is only of one type in prokaryotes and can
transcribe all types of RNAs.
8. RNA polymerase is a holoenzyme that is represented as (?2??’?)?.
9. Molecular weight of holoenzyme is 4,50,000.
10. The enzyme without subunit is referred to as core enzyme.
11. Though, the core enzyme is capable of transcribing DNA into RNA but transcription starts non
specifically at any base on DNA.
12. It is a sigma factor subunit which confers specificity. Rho factor (p) is required for termination of
transcription.
(a) Sigma Factor : Binds to the promoter site of DNA and it initiates transcription.
(b) Core Complex : It continues the transcription.
(c) Rho Factor : It terminates transcription, its molecular weight is 55,000.

13. In eukaryotes
i. Enzyme involved in transcription, RNA polymerase (DNA dependent RNA polymerase), catalyses
in only one direction i.e., 52 to 32 .
ii. Therefore, the strand with polarity 32 ? 52 acts as a template (Template Strand).
iii. The strand with polarity 52 ? 32 acts as coding strand (which is a misnomer since it does not code
for anything). Coding strand has sequence similar to RNA formed after transcription except for
the change that thymine is present instead of uracil.
iv. Three different kinds of RNA polymerases are present.
RNA polymerase I transcribes rRNA.
RNA polymerase II transcribes hnRNA (mRNA precursor).
RNA polymerase III transcribes tRNA, snRNA, and srRNA.
v. The precursor of mRNA, i.e. hnRNA, contains both introns and exons. Introns are removed and
exons are joined by a process called splicing.
vi. When hnRNA is fully processed, it is known as mRNA, which is transported out of the nucleus to
get translated.
vii. The gene in eukaryotes, however, is made of several pieces of base sequences coding for amino
acids called ‘exonic DNA’, separated by stretches of noncoding sequences, commonly called
‘intronic DNA’.
viii. The coding DNA sequences of the gene are called exons and the intervening noncoding DNA
sequences are called ‘introns’.
ix. All introns have GU at 5' end and AG at 3' end. Depending on the size of gene, the number and
length of exons may vary from a few to more than fifty, alternating with stretches of DNA that
contain no genetic information introns.
x. This primary transcript is converted into functional mRNA after posttranscriptional processing
which involves 3 steps:
1. Modification of 5' end by Capping:
2. Polyadenylation at 3' end (Tailing)
3. Splicing of hnRNA (Tailoring)
xi. Normally, mRNA carries the codons of single complete protein molecule (monocistronic mRNA)
in eukaryotes, but in prokaryotes, it carries codons from several adjacent DNA cistrons and
becomes much longer in size (polycistronic mRNA).

7. GENETIC CODE
• Term was coined by Gamow.

• DNA (or RNA) carries all the genetic information.
• It is expressed in the form of proteins.
• Proteins are made up of 20 different types of essential amino acids.
• The information about the number and sequence of these amino acids forming protein is present
in DNA and is passed on to mRNA during transcription.
• Genetic code is a mRNA sequence containing coded information for one amino acid and consists of
three nucleotides (triplet).
Thus, for twenty amino acids, 64 (4 × 4 × 4 or 43 = 64) minimum possible permutations are available.

7.1 Properties of Genetic Code
7.1.1 TRIPLET CODE
Three adjacent nitrogen bases constitute a codon which specifies the placement of one amino acid
in a polypeptide.
7.1.2 START SIGNAL

Polypeptide synthesis is signalled by two initiation codonsAUG or rarely GUG. The first or initiating
amino acid is methionine. The initiating codon on mRNA for methionine is AUG. Initiating methion
ine occurs in formulated state in prokaryotes. At other positions methionine is nonformylated.
Both these methionines are carried by different tRNAs. Rarely, GUG also serves as initiation codon.
It normally codes for valine but if present at initiating position, it would code for methionine. So,
GUG is an ambiguous codon .
7.1.3 STOP SIGNAL

Polypeptide chain termination is signalled by three termination codonsUAA (ochre), UAG (amber)
and UGA (opal). They do not specify any amino acid and were hence called as “nonsense codons”.
Whenever present in mRNA, these bring about termination of polypeptide chain and thus, act as
stop signals. Codon UAA, UAG, UGA, AUG, and GUG are also called as “punctuation codons”.
7.1.4 COMMALESS
The genetic code is continuous and does not possess pauses (meaningless base) after each triplet. If
a nucleotide is deleted or added, the whole genetic code will read differently. Thus, a polypeptide
having 50 amino acids shall be specified by a linear sequence of 150 nucleotides. If a nucleotide is
added or deleted in the middle of this sequence, the amino acids before this will be same but
subsequent amino acids will be quite different
7.1.5 UNIVERSAL CODE

The genetic code is applicable universally, i.e., a codon specifies the same amino acid from a virus to
human being or a tree.
7.1.6 NONOVERLAPPING CODE

Every codon is independent and one codon does not overlap the next codon.
7.1.7 DEGENERACY OF CODE

Since there are 64 triplet codons and only 20 amino acids, the incorporation of some amino acids
must be influenced by more than one codon. Only tryptophan and methionine are specified by
single codons. All other amino acids are specified by 26 codons. The latter are called degenerate
codons
7.2 Mutations and Genetic Code

• In a hypothetical mRNA, for example, the codons would normally be translated as follows :
• The insertion of single base G between the 3rd and 4th bases produces completely different
protein from earlier one.
• Similarly, the deletion of single base C at 4th place produces a new chain of amino acids and
hence a different protein.

• Insertion or deletion of one or two nitrogenous bases changes the reading frame from the point
of insertion or deletion.
• Such mutations are called ‘frame shift mutations’.
• However, insertion or deletion of three or its multiple bases insert or delete one or multiple
codons hence one or multiple amino acids and reading frame remains unaltered from that point
onwards.
• This form genetic basis of proof that codon is a triplet and it is read in a contiguous manner.
8. TRANSLATION
• It is the mechanism by which the triplet base sequences of mRNA molecules are converted into a
specific sequence of amino acids in a polypeptidechain. It occurs on ribosomes.
• The major steps are:
8.1 Activation of Amino Acids

In the presence of enzyme aminoacyl tRNA synthetase (E), specific amino acids (AA) bind with ATP

8.2 Charging of tRNA
The AA1AMPE1 complex formed in first step reacts with a specific tRNA. Thus, amino acid is trans
ferred to tRNA. As a result, the enzyme and AMP are liberate
8.3 Formation of Polypeptide Chain

• The presence of a catalyst would enhance the rate of peptide bond formation
• The cellular factory responsible for synthesizing proteins is ribosome. The ribosome consist of
structural RNA and about 80 different proteins. In its inactive state it exist as two subunits (a large
subunit and a small subunit). When the small subunit encounters an mRNA, the process of transla
tion of mRNA to protein begins
• The ribosome also act as a catalyst for the formation of peptide bond
• Translational unit in an mRNA is the region flanked by start codon and stop codon.
• Untranslated regions (UTR) are the regions on mRNA that are not themselves translated, but are
required for efficient translation process. They may be present before start codon (52 UTR) or
after stop codon (32 UTR).
• Initiator tRNA recognises the start codon. (Initiation)
• Then tRNAamino acid complexes bind to their corresponding codon on the mRNA and base
pairing occurs between codon on mRNA and tRNA anticodon.
• tRNA moves from codon to codon on the mRNA and amino acids are added one by one. (Elong
ation)
• Release factor binds to stop codon to terminate the translation. (Termination)
9. REGULATION OF GENE EXPRESSION
1. Gene expression results in formation of polypeptide and it can be regulated at various levels.
2. In eukaryotes, the regulation of gene expression could be exerted at four levels:

(i) Transcriptional level (formation of primary transcript)
(ii) Processing level (regulation of splicing)
(iii) Transport of mRNA from nucleus to the cytoplasm
(iv) Translational level
3. This regulation can be achieved by anyone of the following two processes:

(i) Induction This is a process of gene regulation where addition of a substrate stimulates or
induces synthesis of enzymes needed for its own breakdown.
(ii) Repression In this process of gene regulation, addition of end product stops the synthesis of
enzymes needed for its formation. This phenomenon is also known as ‘feedback repression’.
9.1 Operon
(a) Francois Jacob and Jacques Monod (1961) proposed a model of gene regulation, known as
‘Operon Model’.
(b) Operon is a coordinated group of genes such as structural genes, operator gene, promoter gene,
regulator gene which function or transcribe together and regulate a metabolic pathway as a unit.
9.2 Inducible Operon (lac operon)

• In Escherichia coli, breakdown of lactose requires three enzymes.
• These enzymes are synthesized together in a coordinated manner and the unit is known as ‘lac
operon’.

• Since the addition of lactose itself stimulates the production of required enzymes, it is also known
as ‘inducible system’.
• lac operon consists of following genes :

(A) STRUCTURAL GENES
These genes code for the proteins needed by the cell which include enzymes or other proteins
having structural functions.
In lacoperon, there are following three structural genes:

(i) lac a gene coding for enzyme transacetylase
(ii) lac y gene coding for enzyme permease
(iii) lac z gene coding for enzyme Bgalactosidase
(B) OPERATOR GENE (O)

It interacts with a protein molecule (the regulator molecule), which promotes (induce) or prevents
(repress) the transcription of structural genes.
(C) PROMOTER GENE (P)

This gene is the recognition point where RNA polymerase remains associated.
(D) REGULATOR GENE (I)

This is generally known as inhibitory gene (i). This gene codes for a protein called the repressor
protein. It is an allosteric protein which can exist in two forms. In one form, it is paratactic to an
operator and binds with it and in another form it is paratactic to inducer (like lactose).
• The operon is switched ‘off’ and ‘on’.

• The transcription or function of lac genes or structural genes depends upon operator gene.
• When repressor protein produced by inhibitory gene (i) or regulatory gene binds to operator (o)
gene, RNA polymerase gets blocked. There would be no transcription and the operon model
remains in ‘switched off’ position.
• On the other hand, when inducer like lactose is added, the repressor protein (produced by gene i)
gets bound to it.
• The repressor, therefore, gets released from the operator.
• RNA polymerase is now permitted to act.
• The transcription of lac genes now takes place and the operon model is in ‘switched on’ position.
• All the three genes are transcribed by RNA polymerase to form a single mRNA strand.
• Each gene segment of mRNA is called ‘cistron’ and, therefore, mRNA strand transcribed by more
than one gene is known as ‘polycistronic’.
9.3 Regulation of Gene Expression in Eukaryotes

1. In eukaryotes, functionally related genes do not represent an operon but are present on different
sites in chromosomes.
2. Here, structural gene is called ‘split gene’ which is a mosaic of exons and introns, i.e., base triplet
amino acid matching is not continuous.
3. Britten Davidson gene battery model is most popular for eukaryotic genes.
4. It proposes the occurrence of 5types of genesproducer, receptor, integrator, sensor and
enhancersilencer.
5. Exons are coding part of cistron that forms RNA.
6. Introns are nontranslated part of DNA called IVS (intervening sequences) or spacer DNA.
7. An intron begins with GU and ends up with an AG.
8. However, the entire split gene is transcribed to form a continuous strip of hnRNA.
9. This removal of noncoding intronic part and fusion of exonic coding parts of RNA is called ‘RNA
Splicing’. About 5090% of primary transcribed RNA is discarded during processing.

ZPRACTICE 1
Q1. Name the transcriptionally active region of chromatin in a nucleus. (2015)

Q2. Name the negatively charged and positively charged components of a nucleosome. (2015)
Q3. Name the positively charge proteins around which the negatively charged DNA is wrapped.
(2010)
Q4. How is the length of DNA usually calculated? (2009)
Q5. What is Central dogma ? Who proposed it? (2016)
Q6. Draw a schematic diagram of a part of double stranded dinucleotide DNA chain having all the
four nitrogenous bases and showing the correct polarity.
Q7. (a) How are the following formed and involved in DNA packaging in a nucleus of a cell?
(i) Histone octamer (ii) Nucleosome (iii) Chromatin
(b) Differentiate between euchromatin and heterochromatin. (2016)
Q8. Why is RNA more reactive in comparison to DNA?
Q9. Why is DNA considered a better genetic material? (2013)
Q10. Describe the experiment which demonstrated the existence of “transforming principle”.
Q11. Explain HersheyChase experiment. What was proved through this experiment? (2008)
Q12. What will happen if DNA replication is not followed by cell division in eukaryotic cell? (2014)
Q13. Discuss the role, the enzyme DNA ligase plays during DNA replication. (2016)
Q14. Show DNA replication with the help of a diagram only. (2014)
Q15. Who proposed that DNA replication is semiconservative? How was it experimentally proved
by Meselson and Stahl? (2009)
Q16. What is a cistron?
Q17. Dierentiate between a template strand and coding strand of DNA. (2015)
Q18. State the difference between the structural genes in a transcription unit of prokaryotes and
eukaryotes. (2014)
Q19. Differentiate between exons and introns. (2012)
Q20. Write the help of a schematic diagram, explain the location and the role of the following in a
transcription unit: Promoter, Structural gene, Terminator.
Q21. Describe with the help of a schematic representation, structure of a transcription unit. (2012)
Q22. Explain the process of transcription in prokaryotes. How is the process different in eukary
otes? (2017)
Q23. Give an example of a codon having dual function. (2016)
Q24. How does a degenerate code differ from an unambiguous one? (2015)
Q25. Explain the dual function of AUG codon. Give the sequence of bases it is transcribed from
and its anticodon. (2009)
Q26. Write the two specific codons that a translational unit of mRNA is franked by one on either
sides. (2018)
Q27. What is aminoacylation? State its significance. (2016)
Q28. Mention the role of ribosomes in peptidebond formation. How does ATP facilitate it (2010)
Q29. How do mRNA, tRNA and ribosomes help in the process of translation? (2013)
Q30. Differentiate between the following: Inducer and repressor in lac operon.
Q31. How would lac operon operate in E. coli growing in a culture medium where lactose is
present as source of sugar? (2014)
Q32. Explain the role of regulatory gene in a lac operon. Why is regulation of lac operon called
negative regulation?

10. HUMAN GENOME PROJECT
• The Human genome project was the international, collaborative research program whose goal was
the complete mapping and understanding of all the genes of human beings.
• All genes together are known as “genome”.
• The Human Genome Project as “Mega project” was a 13 year project coordinated by the U.S.
Department of Energy and the National Institute of Health.
• An International Human Genome project was launched in the year 1990 and completed in 2003.
• The International Human Genome sequencing consortium published the first draft of the human
genome in the journal Nature in February 2001
• Human genome is said to have approximately 3 × 109 bp, and the cost of sequencing required is
US$ 3 per bp. The total estimated cost of the project would be approximately 9 billion US dollars. In
human genome 20,000 to 25,000 genes are present, out of them smallest gene is ‘TDF gene’ with 14
bp and largest gene is ‘Duchenne Muscular Dystrophy’ gene with 2400 × 103 bp.
10.1 Goals of HGP

(i) Identification of all the approximately 20,000 25,000 genes in human DNA.
(ii) To determine the sequence of the 3 billion chemical base pairs that make up human DNA.
(iii) To store this information in databases.
(iv) To improve tools for data analysis.
(v) Transfer related technologies to other sectors, such as industries.
(vi) Bioinformatics, i.e., close association of HGP with rapid development of a new area in biology.
(vii) Sequencing of model organisms Complete genome sequence of E.coli, Saccharomyces
cerevisiae, Coenorhabditis elegans; Drosophila melanogaster, D. pseudoobscura, Oryza sativa
and Arabidopsis was achieved in April, 2003.
(viii) Address the ethical, legal and social issues (ELSI) that may arise from the project
10.2 Methodologies
10.2.1 SEQUENCE TAGGED SITE
It is a short DNA segment that occurs only once in a genome and whose exact location and order of
bases is known. STSs serve as landmarks on the physical map of a genome. It is also called as
“Expressed Sequence Tags (ESTs)”. The genes that are expressed as RNA are referred to as ESTs.
10.2.2 SEQUENCE ANNOTATION

Sequencing the whole set of genome that contained all the coding and noncoding sequences, and
later assigning different regions in the sequence with functions, known as ‘Sequence Annotation’.
10.2.3 THE EMPLOYMENT OF RESTRICTION FRAGMENT LENGTH POLYMORPHISM (RFLP)
10.2.4 YEAST ARTIFICIAL CHROMOSOMES (YACS)
10.2.5 BACTERIAL ARTIFICIAL CHROMOSOMES (BACS)
10.2.6 POLYMERASE CHAIN REACTION (PCR)
10.2.7 ELECTROPHORESIS
• For sequencing, the total DNA from a cell is isolated and converted into random fragments of
relatively smaller sizes (recall DNA is a very long polymer, and there are technical limitations in
sequencing very long pieces DNA) and cloned in suitable host using specialised vectors.
• The cloning resulted into amplification of each piece of DNA fragment so that it subsequently
could be sequenced with ease.
.
• The commonly used hosts were bacteria and yeast, and the vectors were called as BAC (bacterial
artificial chromosomes), and YAC (yeast artificial chromosomes).
• The fragments were sequenced using automated DNA sequencers that worked on the principle of
a method developed by Frederick Sanger. These sequences were then arranged based on some
overlapping regions present in them. This required generation of overlapping fragments for
sequencing. Alignment of these sequences was humanly not possible. Therefore, specialised
computer based programs were developed. These sequences were subsequently annotated and
were assigned to each chromosome. The sequence of chromosome 1 was completed only in May
2006 (this was the last of the 24 human chromosomes 22 autosomes and X and Y to be sequenced)
10.3 Salient Features of Human Genome

1. The human genome contains 3164.7 million nucleotide bases.
2. The average gene consists of 3000 bases, but sizes vary greatly, with the largest known human
gene being dystrophin at 2.4 million bases.
3. The total number of genes is estimated at 30,000much lower than previous estimates of 80,000 to
1,40,000 genes. Almost all (99.9 percent) nucleotide bases are exactly the same in all people.
4. The functions are unknown for over 50 per cent of discovered genes.
5. Less than 2 percent of the genome codes for proteins.
6. Repeated sequences make up very large portion of the human genome.
7. Repetitive sequences are stretches of DNA sequences that are repeated many times, sometimes
hundred to thousand times. They are thought to have no direct coding functions, but they shed
light on chromosome structure, dynamics and evolution.
8. Chromosome 1 has most genes (2968), and the Y has the fewest (231).
9. Scientists have identified about 1.4 million locations where singlebase DNA differences (SNPs
single nucleotide polymorphism, pronounced as ‘snips’) occur in humans. This information
promises to revolutionise the processes of finding chromosomal locations for disease associated
sequences and tracing human history
11. DNA FINGERPRINTING
• The chemical structure of everyone’s DNA is the same.

• The only difference between people (or any animal) is the order of the base pairs.
• There are so many millions of base pairs in each person’s DNA that every person has a different
sequence.
• Using these sequences, every person could be identified solely by the sequence of their base
pairs.
• However, there are so many millions of base pairs due to which the task would be very time
consuming.
• Instead, scientists are able to use a shorter method, because of repeating base patterns in DNA
(Satellite DNA).
• These patterns do not, however, give an individual “fingerprint,” but they are able to determine
whether two DNA samples are from the same person, related people, or nonrelated individuals.
11.1 VNTR’s, RFLP, SSR, RAPD

• Every strand of DNA has stretches that contain genetic information which are responsible for an
organism’s development (exons) and stretches that, apparently, supply no relevant genetic infor
mation at all (introns).
• Although the introns may seem useless, it has been found that they contain repeated sequences
of base pairs. These sequences are called “Variable Number Tandem Repeats” (VNTRs).
• VNTR’s also called ‘minisatellites’ were discovered by Alec Jeffreys et. al. of U.K.

• These consist of hypervariable repeat regions of DNA having a basic repeat sequence of 1160 bp
and flanked on both sides by restriction sites. The number of repeats show a very high degree of
polymophism and the size of VNTR varies from 0.1 to 20 Kb. The length of minisatellites and
position of restriction sites is different for each person.
• Therefore, when the genomes of two people are cut using the same restriction enzyme, the length
and number of fragments obtained is different for both. This is called ‘RFLP’ or ‘Restriction Frag
ment Length Polymorphism’.
• These fragments, when separated by gel electrophoresis, and obtained on a Southern Blot, consti
tutes what is called ‘DNA fingerprint’.
• Father of DNA fingerprinting is Alec Jeffreys while the Indian experts Lalji Singh and V. K. Kashyap
are known as ‘Father of Indian Technique’.
11.2 Methodology of DNA fingerprinting

‘The Southern Blot’ is one way to analyze the genetic patterns which appear in a person’s DNA. It
was devised by E.M.Southern (1975) for separating DNA fragments. Performing a Southern Blot
involves:
11.2.1 ISOLATING THE DESIRED DNA

It can be done either chemically, by using a detergent to wash the extra material from the DNA, or
mechanically, by applying a large amount of pressure in order to “squeeze out” the DNA.
11.2.2 CUTTING THE DNA

Cutting the DNA into several pieces of different size is done using one or more restriction enzymes.
11.2.3 SORTING THE DNA BY SIZE

• The process by which the size separation is done is called ‘gel electrophoresis’.
• The DNA is poured into a gel, such as agarose, and an electrical charge is applied to the gel, with
the positive charge at the bottom and the negative charge at the top. Because DNA has a slightly
negative charge, the pieces of DNA will be attracted towards the bottom of the gel.
• The smaller pieces, however, will be able to move more quickly and thus, further towards the
bottom than the larger pieces.
• The differentsized pieces of DNA will therefore, be separated by size, with the smaller pieces
towards the bottom and the larger pieces towards the top.
11.2.4 DENATURING THE DNA FRAGMENTS

Ao that all of the DNA is rendered singlestranded. This can be done either by heating or chemically
treating the DNA in the gel using alkali.
11.2.5 BLOTTING THE DNA

The gel with the sizefractionated. DNA is applied to a sheet of nitrocellulose paper or nylon
membrane, and then baked to permanently attach the DNA to the sheet. The Southern Blot is now
ready to be analyzed
In order to analyze a Southern Blot, a radioactive genetic probe is used in a hybridization reaction with
the DNA in question. If an Xray is taken of the Southern Blot after a radioactive probe has been
allowed to bound with the denatured DNA on the paper, only the areas where the radioactive probe
binds will Show themselves on the film (autoradiography). This allows researchers to identify, in a
particular person’s DNA, the occurrence and frequency of the particular genetic pattern contained in
the probe.

11.3 Practical Applications of DNA Fingerprinting
1. SOLVING CASES OF DISPUTED PATERNITY AND MATERNITY
Because a person inherits his or her VNTRs from his or her parents, VNTR patterns can be used to
establish paternity and maternity.
2. CRIMINAL IDENTIFICATION AND FORESNSICS

DNA isolated from blood, hair, skin cells, or other genetic evidence left at the scene of a crime can
be compared, through VNTR patterns, with the DNA of a criminal suspect to determine guilt or
innocence.
3. PERSONAL IDENTIFICATION
The notion of using DNA fingerprints as a sort of genetic bar code to identify individuals has been
discussed, but this is not likely to happen anytime in the near future. The technology required to
isolate, keep on file, and then analyze millions of very specified VNTR patterns is both expensive
and impractical.
ZPRACTICE 2
Q1. Write the scientific importance of single nucleotide polymorphism identified in human
genome.
Q2. Mention the contribution of genetic maps in human genome project.
Q3. Mention any two ways in which Single Nucleotide Polymorphism (SNPs) identified in human
genome can bring revolutionary change in biological and medical sciences. (2011)
Q4. In human genome which one of the chromosomes has the most genes and which has the
fewest? (2009)
Q5. How is repetitive/satellite DNA separated from bulk genomic DNA for various genetic
experiments?
Q6. Write the full form of VNTR. How is VNTR different from ‘Probe’? (2011)
Q7. Explain the significance of satellite DNA in DNA fingerprinting technique. (2015)
Q8. What are satellite DNA in a genome? Explain their role in DNA fingerprinting. (2009)
Q9. Name a technique to establish the paternity of a newborn baby. Describe the procedure
that you would follow. (2008)
Q10. Name and describe the technique that will help in solving a case of paternity dispute over
the custody of a child by two dierent families. (2010)
Q11. Explain DNA polymorphism on the basis of genetic mapping of human genome
Q12. State the role of VNTR in DNA fingerprinting. (2013)


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Principles of Inheritance and Variation 5/ 1

Principle of Inheritance and Variation

• Variations are common in sexually reproducing organisms.

1 Stem height Tall Dwarf

Zschool Tutorials, Center 1 : Patrakar Colony Road II Center 2 : Iskcon Road

1.1 Selection of pea plant

Zschool Tutorials, Center 1 : Patrakar Colony Road II Center 2 : Iskcon Road

2.1 Mono hybrid cross

On the basis of his experimental crosses, he formulated four postulates.

Zschool Tutorials, Center 1 : Patrakar Colony Road II Center 2 : Iskcon Road

2. Father of genetics ­Mendel; Father of Modem genetics ­Bateson

2.2.1 Law of dominance :

(c) This law is not universally applicable.

These two alleles can be present in three forms :

TT ­ Dominant allele expressed (Homozygous)

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3. On the basis of F2 generation, following observations can be made:

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Law of independent assortment :

2.2.3 Punnett square

1. Graphical representation to calculate the probability of all possible genotypes of offsprings in a

Zschool Tutorials, Center 1 : Patrakar Colony Road II Center 2 : Iskcon Road

2.3 Back Cross and Test Cross

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2.4 Trihybrid cross

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3.1 Incomplete dominance

1. After Mendelism a few cases were observed where F1 phenotype is

3.1.1 Explanation of the concept of dominance:

3.2 Multiple allelism

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3.4 Pleiotropic genes

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4.1 Non­allelic genetic interactions

4.1.1 Complementary genes

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4.1.2 Duplicate genes

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5. CHROMOSOMAL THEORY OF INHERITANCE / PARALLELISM BETWEEN

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5.1 Drosophila melanogaster as material for experimental Genetics

(i) It can be easily reared and bred under laboratory conditions.

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Zschool Tutorials, Center 1 : Patrakar Colony Road II Center 2 : Iskcon Road

6.1 Kinds of Linkage

T.H. Morgan and his coworkers found two types of linkage :

(1) Complete linkage

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(2) Incomplete linkage

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6.2 CROSSING OVER AND RECOMBINATION

Q7. How did Morgan explain linkage of genes? (Board 2011)

7.1 Sex Chromosomes and Autosomes

7.1.1 Chromosomal mechanism of sex determination.

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(i) XX ­XY type

(ii) XX ­XO type

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(iii) ZW ­ZZ type (WZ ­WW Type)

(iv) ZO ­ZZ type

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7.1.2 Non­Allosomic genetic sex determination:

7.1.3 Genic Balance or XlA Balance Theory of Sex Determination:

2. Father of genetics Mendel; Father of Modem genetics Bateson

TT Dominant allele expressed (Homozygous)

4.1 Nonallelic genetic interactions

(i) XX XY type

(ii) XX XO type

(iii) ZW ZZ type (WZ WW Type)

(iv) ZO ZZ type

7.1.2 NonAllosomic genetic sex determination:

(a) SickleCell Anaemia

(i) Alkaptonuria (Garrod, 1908) Due to deficiency of oxidase enzyme.

(ii) Edward’s syndrome Trisomy of 18th chromosome

4.1 Experiment suggesting that DNA replication is SemiConservative

5.2 NonGenetic RNA.

• There are three loops in tRNA