Class: 12th

Notes
Chapter: Genetics
Qno:1. Give a detailed account of the Law of segregation.
Ans: This law states that the pair of factors for a trait separate or segregate from each other during gamete formation
and each gamete receives only one factor for each character. Since each gamete contains only one factor, they are always
homozygous or pure. Hence this law is also called the law of purity of gametes.

Q. Polygenic inheritance.
Ans: Polygenic inheritance: When a single phenotypic trait is governed by more than one pair of genes, it is called a
polygenic trait and the inheritance pattern of such genes is called polygenic inheritance. Such a group of genes are called
polygenes, polygenic set or polygenic system. The various genes of a polygenic set may be located on separate
chromosomes and at different loci. Each gene of a polygenic system contributes a small degree to the overall phenotype.
Since polygenic traits are quantitative, presence of more dominant genes makes the phenotype more prominent and
when the recessive genes are more, the phenotype is less conspicuous. The dominant genes add up their effect.
Q: What is PLEIOTROPY?
Ans: It is the phenomenon in which a single gene simultaneously controls the phenotypic expression of two or more
characters. Such genes having multiple phenotypic effects are called pleiotropic genes. Normally one gene controls the
effect of a single character but pleiotropic genes influence many traits at the same time. Pleiotropy is due to the effect
of a gene on two or more interrelated metabolic pathways. Usually, the effect of Pleiotropic genes are more prominent
on one trait called Major effect, and less evident on the others called secondary effects. Examples of pleiotropy:
i) In garden pea, the same gene controls flower colour and also seed coat colour and red spots in the leaf axils.
ii) In drosophila, the same gene which controls white eye colour also leads to depigmentation in other parts of the body.
iii) In Sickle cell anaemia of human beings, the same gene alters the type of haemoglobin as well as the shape of RBCs
from normal to sickle like.
iv) The gene that causes Phenylketonuria (an inborn autosomal recessive metabolic disorder) also exhibits pleiotropic
effect. In PKU the homozygous recessive individual lacks the enzyme phenylalanine hydroxylase needed to change
amino acid phenylalanine to tyrosine in the liver. It results in phenylalaninemia which is characterised by accumulation
and excretion of phenylalanine and related compounds. Lack of the enzyme is due to abnormal autosomal recessive
gene on chromosome 12. The pleiotropic effects of this gene include hyperalaninemia, impaired brain development,
mental retardation, defects in speech and walking, decreased hair pigmentation. Heterozygous individuals are normal
but act as carriers. One in about 18000 births among white Europeans has PKU.
Q: What is MULTIPLE ALLELISM:
Ans: The presence of more than two alleles of a gene within a population is called multiple allelism and such alleles are
called multiple alleles. Despite the presence of many alleles for a gene within a population, a diploid organism can
possess only two alleles. Multiple alleles arise as a result of repeated mutation of the same gene in different directions.
The main features of multiple allelism are:
i) There are more than two alleles of a gene in a population. Drosophila possesses
15 alleles for eye colour.
ii) Multiple alleles occupy the same gene locus of homologous chromosomes.

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 iii) A diploid individual possesses only two alleles and each gamete carries only one allele.
iv) Multiple alleles express different alternatives of the same character.
v) Different alleles of multiple allele series show codominance, dominance-recessive behaviour or an incomplete
dominance amongst themselves. The most common example of multiple allelism is Human blood groups which are
determined by three alleles. Humans have four blood group phenotypes – A, B, AB and O. These blood groups are
determined by two antigens (A and B) present on the surfaces of red blood corpuscles. The antigens occur on sugar rich
head regions of glycophorin. Persons with blood group A have antigen A, group B have antigen B, AB persons have
both A and B antigens while as blood group O people have no antigen on their erythrocytes. These antigens are
determined by three immunogen alleles – IA, IB and IO. Allele IA forms antigen A, IB forms antigen B and IO forms no
antigen at all.
Q: Chromosome Theory of Inheritance:
Ans: Walter Sutton found a close parallelism between the transmission of genes (Mendelian factors) and the
chromosomal behaviour during sexual reproduction. This includes:
i) The chromosomes occur in homologous pairs in diploid cells. Similarly, each gene also exists as allele pairs.
ii) Chromosomes segregate at the time of gamete formation such that only one of each pair is transmitted to a gamete.
Genes also segregate during gamete formation and only one of each pair is transmitted to the gamete.
iii) During gamete formation, homologous chromosomes of one pair segregate from each other independently to that of
other pairs. A pair of genes (alleles) also segregates independently of other allele pairs.
iv) Chromosomes again pair during fertilization and similarly genes again pair at the time of fertilization. These
similarities between the behaviour of chromosomes and genes led to the postulation of chromosome theory of
inheritance by Walter Sutton and Theodore Boveri independently in 1902. This was later confirmed by T.H. Morgan.
This theory states that:
The Mendelian factors or genes are located on chromosomes and it is the chromosomes that segregate and assort
independently during meiosis and recombine at the time of fertilization. Explanation: The chromosome theory of
inheritance can be understood with the help of a dihybrid cross between a pea plant homozygous for Yellow seed colour
and round shape and a plant homozygous for green seed colour and wrinkled shape. The figure shows thesegregation of
alleles of the gene for seed shape and seed colour during gamete formation for F1 generation. It shows that there can be
two possible ways in which the two replicated homologous chromosomes segregate in the metaphase of Meiosis-I. This
leads to the independent assortment of the chromosomes and the genes located in them in four possible ways. This
produces four types of gametes each with half the number of chromosomes and genes. Of these four types, two are
parental and two are recombinants i.e. with new combinations of chromosomes and genes. All the four types of gametes
have equal proportion of chromosomes and genes. They have equal proportion i.e. 25% each. These gametes by random
fusion give rise to F2 generation of four types of pea plants in the ratio 9:3:3:1
Q: DNA packaging in Eukaryotes?
Ans: It is carried out with the help of lysine and arginine rich basic proteins called histone. The unit of compaction is
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 nobody or core of nucleosome. Their positively
charged ends are directed outside. The negatively charged DNA is wrapped around the positively charged histone
octamer to form a structure called nucleosome. A typical nucleosome contains 200 bp of DNA Helix. 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 bead on string appearance under electron microscope. The
nucleosomes further coils to form solenoid. It has diameter of 30 nm as found in chromatin. The beads on string structure
in chromatin is pack-aged 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 non-histone chromosomal (NHC) proteins.
Non-Histone chromosomal proteins are of three types:
(i) Structural NHC protein
(ii) Functional NHC protein e.g., DNA polymerase, RNA polymerase

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 (iii) Regulatory NHC protein

Q: Explain semiconservative mode of DNA replication in Prokaryotes?

Ans: Semi conservative mode of D.N.A. replication was first proposed by Watson & Crick. Later on it was
experimentally proved by Meselson & Stahl (1958) in E - Coli and Taylor in Vicia faba (1958).To prove this method,
Taylor used Radiotracer Technique in which Radioisotopes (tritiated thymidine = 1H3) were used. Meselson and Stahl
used heavy isotope of nitrogen (N15).
Matthew Meselson and Franklin Stahl performed the following experiment in 1958:
(i) They grew E. coli in a medium containing 15NH4Cl (15N is the heavy isotope of nitrogen) as the only nitrogen
source for many generations. The result was that 15N was incorporated into newly synthesised DNA (as well as other
nitrogen containing compounds). This heavy DNA molecule could be distinguished from the normal DNA by
centrifugation in a cesium chloride (CsCl) density gradient (Please note that 15N is not a radioactive isotope, and it can
be separated from 14N only based on densities).
(ii) Then they transferred the cells into a medium with normal 14NH4Cl and took samples at various definite time
intervals as the cells multiplied, and extracted the DNA that remained as double-stranded helices. The various samples
were separated independently on CsCl gradients to measure the densities of DNA.
(iii) Thus, the DNA that was extracted from the culture one generation after the transfer from 15N to 14N medium [that
is after 20 minutes; E. coli divides in 20 minutes] had a hybrid or intermediate density. DNA extracted from the culture
after another generation [that is after 40 minutes, II generation] was composed of equal amounts of this hybrid DNA
and of. light. DNA.

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 Q: Explain the functioning of Lac operon in detail.
Ans: The Lac Operon: The pioneering work in gene regulation was done by two French scientists Francios Jacob
(Geneticist) and Jaque Monod (Biochemist). They put forth the Lac Operon model of gene regulation in 1961 for which
they received Nobel Prize for Physiology and Medicine in 1965. In Lac Operon (here lac refers to lactose), a
polycistronic structural gene is regulated by a common promoter and regulatory gene. The Lac Operon consists of one
regulatory gene (i gene - inhibitor) and three structural genes (cistrons) namely Lac Z, Lac Y, and Lac A). The i gene
codes for the repressor of the Lac Operon. The Z gene codes for an enzyme beta-galactosidase (also called Lactase),
which hydrolyses disaccharide lactose into monosaccharides galactose and glucose. The Y gene codes for β-galactoside
permease, which increases permeability of the cell to β-galactosides (lactose). The A gene encodes another enzyme,
transacetylase. Hence, all the three gene products in Lac operon are enzymes required for metabolism of Lactose. The
Lac Operon consists of one regulatory gene (i gene - inhibitor) and three structural genes (cistrons) namely Lac Z, Lac
Y, and Lac A). The i gene codes for the repressor of the Lac Operon. The Z gene codes for an enzyme beta-galactosidase
(also called Lactase), which hydrolyses disaccharide lactose into monosaccharides galactose and glucose. The
Y gene codes for β-galactoside permease, which increases permeability of the cell to β-
galactosides (lactose). The A gene encodes another enzyme, transacetylase. Hence, all the three gene products in Lac
operon are enzymes required for metabolism of Lactose. Lac Operon is an Inducible Operon: Inducible operon is one
that is switched on by the presence of substrate (inducer). In Lac Operon, Lactose is the substrate for the enzyme beta-
galactosidase and it regulates switching on and off of the operon. Hence lactose is termed here as inducer. In this Operon,
The regulator gene 'i’ is a constitutive gene (housekeeping gene) and forms its product repressor all the time. In the
absence of Lactose (inducer), the Repressor protein remains attached to the Operator region of the Operon and thereby
prevents RNA polymerase from binding to the Promoter thus ceasing any transcription of structural genes Z, Y and A.
If lactose (inducer) is provided in the growth medium (when it’s preferred source i.e. glucose is absent), the repressor
gets inactivated because it binds with the inducer(lactose) owing to its affinity towards it. The repressor-inducer complex
is unable to bind with operator gene. This allows RNA polymerase access to the promoter (Operon is Switched on)
leading to transcription of Lac Z, Lac Y and Lac A. Transcription is followed by translation of the three structural genes
which are the three enzymes (β-galactosidase, β-galactoside permease and transacetylase). β -galactosidase breaks down
Lactose into its monosaccharide units-glucose and galactose and permease transports more lactose into the cell to get
metabolised by β-galactosidase. Process of transcription and translation of structural genes continues till most of the
lactose is metabolised. Now there are no more inducers to bind with continuously forming repressors and therefore
repressor again binds with the operator. The RNA polymerase cannot bind with promoter now and transcription of
structural stops again, thus the Operon is switched off.
Q: Define the following.
1. Genetic Code.
2. Central Dogma.
Genetic Code: The genetic code is the set of rules by which information encoded in genetic material (DNA or RNA
sequences) is translated into proteins (amino acid sequences) by living cells.
Translation requires transfer of genetic information from nucleotides to amino acids but no complementarity can be seen
between the two. So, a genetic code was proposed that could direct the sequence of amino acids during synthesis of
proteins. Deciphering of genetic code was one of the most challenging jobs in molecular biology. It required involvement
of scientists from varied disciplines – physics, organic chemistry, biochemistry and genetics. It was George Gamow, a
physicist, who argued that genetic code should be in triplet form (three nucleotides forming one codon) as there are only
four types of nucleotides and twenty types of amino acids. Har Gobind Khorana developed the chemical method for
synthesizing RNA molecules with defined combinations of bases (homopolymers and copolymers). Marshall
Nirenberg’s cell-free system for protein synthesis finally helped the code to be deciphered. Severo Ochoa’s discovery
of enzyme polynucleotide phosphorylase was also helpful in polymerising RNA with defined sequences in a template
independent manner (enzymatic synthesis of RNA).
1. Genetic code is a triplet: As pointed out earlier, the coding units or codons for amino acids comprise three letter words
(triplets). Each codon is actually a three-nucleotide sequence of mRNA.

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 2. The Code is Degenerate: The occurrence of more than one codon for a single amino acid is referred to as degeneracy.
Out of 61 functional codons, AUG and UGG code to one amino acid each. But remaining 18 amino acids are coded by
59 codons.
3. The Code is Non-overlapping: In a non-overlapping code, the same letter (i.e., base) is not used in the formation of
more than one codon.
4. The Code is Comma Less: A comma less code means that no nucleotide or comma
(or punctuation) is present in between two codons. Therefore, code is continuous and comma less and no letter is wasted
between two words or codons.
5. The Code is Unambiguous: There is no ambiguity in the genetic code. A given codon always codes for a particular
amino acid, wherever it is present.
6. The Code is Universal: The genetic code has been found to be universal in all kinds of living organisms — prokaryotes
and eukaryotes.
7. Start and Stop codons: There is a specific codon AUG that initiates the process of protein synthesis (initiation codon)
and there are three codons that signal the termination of polypeptide synthesis (Termination codons; non-sense codons).
8. Collinearity: DNA is a linear polynucleotide chain and a protein is a linear polypeptide chain. The sequence of amino
acids in a polypeptide chain corresponds to the sequence of nucleotide bases in the gene (DNA) that code for it. Change
in a specific codon in DNA produces a change of amino acid in the corresponding position in the polypeptide. The gene
and the polypeptide it codes for are said to be co-linear.
9. Gene-polypeptide Parity: A specific gene transcribes a specific mRNA that produces a specific polypeptide. On this
basis, a cell can have only as many types of polypeptides as it has types of genes. However, this does not apply to certain
viruses which have overlapping genes.

Central Dogma.
Generally, dogma refers to a set of principles laid down by an authority as incontrovertibly true and the core principle
in that set of rules is called central dogma. Soon after the successful elucidation of structure of DNA in the form of
Double Helix. Model, Francis Crick proposed the central dogma in molecular biology. It states that the flow of
genetic information takes place from DNA to RNA and then RNA to Proteins. The coded genetic information flows
from DNA located inside the nucleus to RNA present in the cytoplasm by the process of transcription. The coded
information on RNA is later decoded in the form of proteins by the process of translation. Crick proposed that the
flow of genetic information is unidirectional from DNA to RNA and to Proteins. This central dogma was however
modified later with the discovery of retroviruses. Howard Temin and David Baltimore (1970) isolated an enzyme
from some RNA viruses that help them to generate DNA from their RNA (genetic material). They called the
phenomenon of turning RNA into DNA as Reverse Transcription and named this enzyme Reverse Transcriptase.
Now as per the modified central dogma, the flow of information is not universally unidirectional but bidirectional
for transcription in some cases.

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