Carbohydrates are macronutrients and are one of the three main ways by which

our body obtains its energy. They are called carbohydrates as they comprise
carbon, hydrogen and oxygen at their chemical level. Carbohydrates are essential
nutrients which include sugars, fibers and starches. They are found in grains,
vegetables, fruits and in milk and other dairy products. They are the basic food
groups which play an important role in a healthy life.
Classification of Carbohydrates
Simple Carbohydrates (Monosaccharides, Disaccharides and Oligosaccharides)
Simple carbohydrates have one or two sugar molecules. In simple carbohydrates,
molecules are digested and converted quickly resulting in a rise in the blood sugar
levels. They are abundantly found in milk products, beer, fruits, refined sugars,
candies, etc. These carbohydrates are called empty calories, as they do not
possess fiber, vitamins and minerals.
1. Monosaccharides
Glucose is an example of a carbohydrate monomer or monosaccharide. Other
examples of monosaccharides include mannose, galactose, fructose, etc
Monosaccharides may be further classified depending on the number of carbon
atoms:
(i)Trioses (C3H6O3): These have three carbon atoms per molecule. Example:
Glyceraldehyde
(ii)Tetroses (C4H6O4): These monosaccharides have four carbon atoms per
molecule. Example: Erythrose.
Similarly, we have-
(iii) Pentoses,
(iv) Hexoses, and
(v) Heptoses
2. Disaccharides
Two monosaccharides combine to form a disaccharide. Examples of
carbohydrates having two monomers include- Sucrose,Lactose, Maltose, etc.
 3. Oligosaccharides
Carbohydrates formed by the condensation of 2-9 monomers are called
oligosaccharides. By this convention, trioses, pentoses, hexoses are all
oligosaccharides.
Complex Carbohydrates (Polysaccharides)
Complex carbohydrates have two or more sugar molecules, hence they are
referred to as starchy foods. In complex carbohydrates, molecules are digested
and converted slowly compared to simple carbohydrates. They are abundantly
found in lentils, beans, peanuts, potatoes, peas, corn, whole-grain bread, cereals,
etc.
Polysaccharides are complex carbohydrates formed by the polymerization of a
large number of monomers. Examples of polysaccharides include starch,
glycogen, cellulose, etc. which exhibit extensive branching and are homopolymers
– made up of only glucose units.
Starch is composed of two components- amylose and amylopectin. Amylose
forms the linear chain and amylopectin is a much-branched chain.
Glycogen is called animal starch. It has a structure similar to starch, but has more
extensive branching.
Cellulose is a structural carbohydrate and is the main structural component of the
plant cell wall. It is a fibrous polysaccharide with high tensile strength. In contrast
to starch and glycogen, cellulose forms a linear polymer.
Functions of Carbohydrates
The main function of carbohydrates is to provide energy and food to the body and
to the nervous system.
Carbohydrates are known as one of the basic components of food, including
sugars, starch, and fibre which are abundantly found in grains, fruits and milk
products.
Carbohydrates are also known as starch, simple sugars, complex carbohydrates
and so on.
It is also involved in fat metabolism and prevents ketosis.
Inhibits the breakdown of proteins for energy as they are the primary source of
energy.
An enzyme by name amylase assists in the breakdown of starch into glucose,
finally to produce energy for metabolism.
Sources of Carbohydrates
Simple sugars are found in the form of fructose in many fruits.
Galactose is present in all dairy products.
Lactose is abundantly found in milk and other dairy products.
Maltose is present in cereal, beer, potatoes, processed cheese, pasta, etc.
Sucrose is naturally obtained from sugar and honey containing small amounts of
vitamins and minerals.
Carbohydrate Foods
Eating too much sugar results in an abnormal increase in calories, which finally
leads to obesity and in turn low calories leads to malnutrition. Therefore, a well-
balanced diet needs to be maintained to have a healthy life. That is the reason a
balanced diet is stressed so much by dietitians.
Examples of Carbohydrates
Glucose
Galactose
Maltose
Fructose
Sucrose
Lactose
Starch
Cellulose
Chitin
How are the carbohydrates important to our body?
Carbohydrates provide energy to the body. It breaks down into glucose and
enters our bloodstream. The body cells utilize glucose to produce ATP.
Name a few sources of carbohydrates.?
Carbohydrates are obtained from a variety of sources such as bread, milk,
potatoes, cookies, corn, etc.
How are the carbohydrates digested?
Carbohydrates start being digested in the mouth by the action of salivary
amylase. They are not completely broken down in the stomach, but in the
intestine.
What are simple carbohydrates? Give examples.
Simple carbohydrates are the ones that are quickly broken down by the body to
be converted into energy. Fruits, milk and milk products are the main sources of
simple carbohydrates.
How are complex carbohydrates different from simple carbohydrates?
Complex carbohydrates are the ones in which the sugar molecules are strung in
long, complex chains. Peas, beans, vegetables and grains are the important
sources of carbohydrates.
Name some bad carbohydrates that are harmful to the body.
The bad carbs include:
White bread
Sugary drinks
Pastries
Candies and chocolates
Lipids Definition
“Lipids are organic compounds that contain hydrogen, carbon, and oxygen atoms,
which form the framework for the structure and function of living cells.”
Properties of Lipids
Lipids are a family of organic compounds, composed of fats and oils. These
molecules yield high energy and are responsible for different functions within the
human body. Listed below are some important characteristics of Lipids.
Lipids are oily or greasy nonpolar molecules, stored in the adipose tissue of the
body.
Lipids are a heterogeneous group of compounds, mainly composed of
hydrocarbon chains.
Lipids are energy-rich organic molecules, which provide energy for different life
processes.
Lipids are a class of compounds characterised by their solubility in nonpolar
solvents and insolubility in water.
Lipids are significant in biological systems as they form a mechanical barrier
dividing a cell from the external environment known as the cell membrane.

Lipids can be classified into two main classes:

Nonsaponifiable Lipids
A nonsaponifiable lipid cannot be disintegrated into smaller molecules through
hydrolysis. Nonsaponifiable lipids include cholesterol, prostaglandins, etc
Saponifiable Lipids
A saponifiable lipid comprises one or more ester groups, enabling it to undergo
hydrolysis in the presence of a base, acid, or enzymes, including waxes,
triglycerides, sphingolipids and phospholipids.
Further, these categories can be divided into non-polar and polar lipids.
Nonpolar lipids, namely triglycerides, are utilized as fuel and to store energy.
Polar lipids, that could form a barrier with an external water environment, are
utilized in membranes. Polar lipids comprise sphingolipids and
glycerophospholipids.
Types of Lipids
Within these two major classes of lipids, there are numerous specific types of
lipids, which are important to life, including fatty acids, triglycerides,
glycerophospholipids, sphingolipids and steroids. These are broadly classified as
simple lipids and complex lipids.
Simple Lipids
Esters of fatty acids with various alcohols.
Fats: Esters of fatty acids with glycerol. Oils are fats in the liquid state
Waxes: Esters of fatty acids with higher molecular weight monohydric alcohols.
Complex Lipids
Esters of fatty acids containing groups in addition to alcohol and fatty acid.
Phospholipids: These are lipids containing, in addition to fatty acids and alcohol,
phosphate group. They frequently have nitrogen-containing bases and other
substituents, eg, in glycerophospholipids the alcohol is glycerol and in
sphingophospholipids the alcohol is sphingosine.
Glycolipids (glycosphingolipids): Lipids containing a fatty acid, sphingosine and
carbohydrate.
Other complex lipids: Lipids such as sulfolipids and amino lipids. Lipoproteins may
also be placed in this category.
Precursor and Derived Lipids
These include fatty acids, glycerol, steroids, other alcohols, fatty aldehydes, and
ketone bodies, hydrocarbons, lipid-soluble vitamins, and hormones. Because they
are uncharged, acylglycerols (glycerides), cholesterol, and cholesteryl esters are
termed neutral lipids. These compounds are produced by the hydrolysis of simple
and complex lipids.
Some of the different types of lipids are described below in detail.
Fatty Acids
Fatty acids are carboxylic acids (or organic acid), usually with long aliphatic tails
(long chains), either unsaturated or saturated.
Saturated fatty acids
Lack of carbon-carbon double bonds indicate that the fatty acid is saturated. The
saturated fatty acids have higher melting points compared to unsaturated acids of
the corresponding size due to their ability to pack their molecules together thus
leading to a straight rod-like shape.
Unsaturated fatty acids
Unsaturated fatty acid is indicated when a fatty acid has more than one double
bond.
“Often, naturally occurring fatty acids possesses an even number of carbon atoms
and are unbranched.”
Role of Fats
Fats in the correct amounts are necessary for the proper functioning of our body.
Many fat-soluble vitamins need to be associated with fats in order to be
effectively absorbed by the body.
They also provide insulation to the body.
They are an efficient way to store energy for longer periods
Examples of Lipids
Waxes
Waxes are “esters” (an organic compound made by replacing the hydrogen with
acid by an alkyl or another organic group) formed from long-alcohols and long-
chain carboxylic acids.
Waxes are found almost everywhere. The fruits and leaves of many plants possess
waxy coatings, that can safeguard them from small predators and dehydration.
Phospholipids
Membranes are primarily composed of phospholipids that are
Phosphoacylglycerols.
Steroids
Our bodies possess chemical messengers known as hormones, which are basically
organic compounds synthesized in glands and transported by the bloodstream to
various tissues in order to trigger or hinder the desired process.
Steroids are a kind of hormone that is typically recognized by their tetracyclic
skeleton, composed of three fused six-membered and one five-membered ring, as
seen above. The four rings are assigned as A, B, C & D as observed in the shade
blue, while the numbers in red indicate the carbons.
Cholesterol
Cholesterol is a wax-like substance, found only in animal source foods.
Triglycerides, LDL, HDL, VLDL are different types of cholesterol found in the blood
cells.
Cholesterol is an important lipid found in the cell membrane. It is a sterol, which
means that cholesterol is a combination of steroid and alcohol. In the human
body, cholesterol is synthesized in the liver.
These compounds are biosynthesized by all living cells and are essential for the
structural component of the cell membrane.
In the cell membrane, the steroid ring structure of cholesterol provides a rigid
hydrophobic structure that helps boost the rigidity of the cell membrane. Without
cholesterol, the cell membrane would be too fluid.
It is an important component of cell membranes and is also the basis for the
synthesis of other steroids, including the sex hormones estradiol and
testosterone, as well as other steroids such as cortisone and vitamin D.
How are lipids important to our body?
Lipids play a very important role in our body. They are the structural component
of the cell membrane. They help in providing energy and produce hormones in
our body. They help in the proper digestion and absorption of food. They are a
healthy part of our diet if taken in proper amounts. They also play an important
role in signalling.
How are lipids digested?
The enzyme lipase breaks down fats into fatty acids and glycerol, which is
facilitated by bile in the liver.
What is lipid emulsion?
It refers to an emulsion of lipid for human intravenous use. These are also
referred to as intralipids which is the emulsion of soybean oil, glycerin and egg
phospholipids. It is available in 10%, 20% and 30% concentrations.
How are lipids metabolized?
Lipid metabolism involves the oxidation of fatty acids to generate energy to
synthesize new lipids from smaller molecules. The metabolism of lipids is
associated with carbohydrate metabolism as the products of glucose are
converted into lipids.
How are lipids released in the blood?
The medium-chain triglycerides with 8-12 carbons are digested and absorbed in
the small intestine. Since lipids are insoluble in water, they are carried to the
bloodstream by lipoproteins which are water-soluble and can carry the lipids
internally.
What are lipids made up of?
Lipids are made up of a glycerol molecule attached to three fatty acid molecules.
Such a lipid is called triglyceride.
What are Nucleic Acids?
Nucleic acids are long-chain polymeric molecules, the monomer (the repeating
unit) is known as the nucleotides and hence sometimes nucleic acids are referred
to as polynucleotides.
Deoxyribonucleic acid (DNA) and ribonucleic acid (RNA) are two major types of
nucleic acids. DNA and RNA are responsible for the inheritance and transmission
of specific characteristics from one generation to the other. There are
prominently two types of nucleic acids known to us.
Deoxyribonucleic Acid (DNA)
Chemically, DNA is composed of a pentose sugar, phosphoric acid and some cyclic
bases containing nitrogen. The sugar moiety present in DNA molecules is β-D-2-
deoxyribose. The cyclic bases that have nitrogen in them are adenine (A), guanine
(G), cytosine(C) and thymine (T). These bases and their arrangement in the
molecules of DNA play an important role in the storage of information from one
generation to the next one. DNA has a double-strand helical structure in which
the strands are complementary to each other.
Ribonucleic Acid (RNA)
The RNA molecule is also composed of phosphoric acid, a pentose sugar and
some cyclic bases containing nitrogen. RNA has β-D-ribose in it as the sugar
moiety. The heterocyclic bases present in RNA are adenine (A), guanine (G),
cytosine(C) and uracil (U). In RNA the fourth base is different from that of DNA.
The RNA generally consists of a single strand which sometimes folds back; that
results in a double helix structure. There are three types of RNA molecules, each
having a specific function:
Messenger RNA (m-RNA)
Ribosomal RNA (r-RNA)
Transfer RNA (t-RNA)
The Functions of Nucleic Acids
1) Nucleic acids are responsible for the transmission of inherent characters from
parent to offspring.
2) They are responsible for the synthesis of protein in our body
3) DNA fingerprinting is a method used by forensic experts to determine
paternity. It is also used for the identification of criminals. It has also played a
major role in studies regarding biological evolution and genetics.
What is DNA?
“DNA is a group of molecules that is responsible for carrying and transmitting the
hereditary materials or the genetic instructions from parents to offsprings.”
This is also true for viruses, as most of these entities have either RNA or DNA as
their genetic material. For instance, some viruses may have RNA as their genetic
material, while others have DNA as the genetic material. The Human
Immunodeficiency Virus (HIV) contains RNA, which is then converted into DNA
after attaching itself to the host cell.
Apart from being responsible for the inheritance of genetic information in all
living beings, DNA also plays a crucial role in the production of proteins. Nuclear
DNA is the DNA contained within the nucleus of every cell in a eukaryotic
organism. It codes for the majority of the organism’s genomes while the
mitochondrial DNA and plastid DNA handles the rest.
The DNA present in the mitochondria of the cell is termed mitochondrial DNA. It is
inherited from the mother to the child. In humans, there are approximately
16,000 base pairs of mitochondrial DNA. Similarly, plastids have their own DNA,
and they play an essential role in photosynthesis.
DNA Types
A-DNA: It is a right-handed double helix similar to the B-DNA form. Dehydrated
DNA takes an A form that protects the DNA during extreme conditions such as
desiccation. Protein binding also removes the solvent from DNA, and the DNA
takes an A form.
B-DNA: This is the most common DNA conformation and is a right-handed helix.
The majority of DNA has a B type conformation under normal physiological
conditions.
Z-DNA: Z-DNA is a left-handed DNA where the double helix winds to the left in a
zig-zag pattern. It was discovered by Andres Wang and Alexander Rich. It is found
ahead of the start site of a gene and hence, is believed to play some role in gene
regulation.
Who Discovered DNA?
DNA was first recognized and identified by the Swiss biologist Johannes Friedrich
Miescher in 1869 during his research on white blood cells.
Structure of DNA
The DNA structure can be thought of as a twisted ladder. This structure is
described as a double-helix, as illustrated in the figure above. It is a nucleic acid,
and all nucleic acids are made up of nucleotides. The DNA molecule is composed
of units called nucleotides, and each nucleotide is composed of three different
components such as sugar, phosphate groups and nitrogen bases.
The basic building blocks of DNA are nucleotides, which are composed of a sugar
group, a phosphate group, and a nitrogen base. The sugar and phosphate groups
link the nucleotides together to form each strand of DNA. Adenine (A), Thymine
(T), Guanine (G) and Cytosine (C) are four types of nitrogen bases.
These 4 Nitrogenous bases pair together in the following way: A with T, and C
with G. These base pairs are essential for the DNA’s double helix structure, which
resembles a twisted ladder.
The order of the nitrogenous bases determines the genetic code or the DNA’s
instructions.
Among the three components of DNA structure, sugar is the one which forms the
backbone of the DNA molecule. It is also called deoxyribose. The nitrogenous
bases of the opposite strands form hydrogen bonds, forming a ladder-like
structure.
The DNA molecule consists of 4 nitrogen bases, namely adenine (A), thymine (T),
cytosine (C) and Guanine (G), which ultimately form the structure of a nucleotide.
The A and G are purines, and the C and T are pyrimidines.
The two strands of DNA run in opposite directions. These strands are held
together by the hydrogen bond that is present between the two complementary
bases. The strands are helically twisted, where each strand forms a right-handed
coil, and ten nucleotides make up a single turn.
The pitch of each helix is 3.4 nm. Hence, the distance between two consecutive
base pairs (i.e., hydrogen-bonded bases of the opposite strands) is 0.34 nm.
The DNA coils up, forming chromosomes, and each chromosome has a single
molecule of DNA in it. Overall, human beings have around twenty-three pairs of
chromosomes in the nucleus of cells. DNA also plays an essential role in the
process of cell division.
Chargaff’s Rule
Erwin Chargaff, a biochemist, discovered that the number of nitrogenous bases in
the DNA was present in equal quantities. The amount of A is equal to T, whereas
the amount of C is equal to G.
A=T; C=G
In other words, the DNA of any cell from any organism should have a 1:1 ratio of
purine and pyrimidine bases.
DNA Functions:
Replication process:
Mutations:
Transcription
Cellular Metabolism
DNA Fingerprinting
Gene Therapy
Why DNA is called a Polynucleotide Molecule?
The DNA is called a polynucleotide because the DNA molecule is composed of
nucleotides – deoxyadenylate (A) deoxyguanylate (G) deoxycytidylate (C) and
deoxythymidylate (T), which are combined to create long chains called a
polynucleotide. As per the DNA structure, the DNA consists of two chains of
polynucleotides.
DNA Replication
In the process of DNA replication, the DNA makes multiple copies of itself. It is a
biological polymerisation, which proceeds in the sequence of initiation,
elongation, and termination. It is an enzyme-catalysed reaction. DNA Polymerase
is the main enzyme in the replication process.
DNA Replication Steps
Initiation
DNA replication demands a high degree of accuracy because even a minute
mistake would result in mutations. Thus, replication cannot initiate randomly at
any point in DNA.
For the replication to begin there is a particular region called the origin of
replication. This is the point where the replication originates. Replication begins
with the spotting of this origin followed by the unwinding of the two DNA strands.
Elongation
As the strands are separated, the polymerase enzymes start synthesising the
complementary sequence in each of the strands. The parental strands will act as a
template for newly synthesising daughter strands.
Termination
Termination of replication occurs in different ways in different organisms. In E.coli
like organisms, chromosomes are circular. And this happens when the two
replication forks between the two terminals meet each other.
Role of Enzymes in DNA Replication
DNA replication is a highly enzyme-dependent process. There are many enzymes
involved in DNA replication, which includes the enzymes, DNA-dependent DNA
polymerase, helicase, ligase, etc. Among them, DNA-dependent DNA polymerase
is the main enzyme.
DNA-dependent DNA polymerase:
It helps in the polymerisation, catalyses and regularises the whole process of DNA
replication with the support of other enzymes. Deoxyribonucleoside
triphosphates are the substrate as well as the energy provider for the replication
process. DNA polymerase is of three types:
DNA Polymerase I
It is a DNA repair enzyme. It is involved in three activities:
5′-3′ polymerase activity
5′-3′ exonuclease activity
3′-5′ exonuclease activity
DNA Polymerase II
It is responsible for primer extension and proofreading.
DNA Polymerase III
It is responsible for in vivo DNA replication.
Helicase:
Helicase is the enzyme, which unzips the DNA strands by breaking the hydrogen
bonds between them. Thus, it helps in the formation of the replication fork.
Ligase
Ligase is the enzyme which joins together the Okazaki fragments of the
discontinuous DNA strands.
Primase
This enzyme helps in the synthesis of RNA primer complementary to the DNA
template strand.
Endonucleases
These produce a single-stranded or a double-stranded cut in a DNA molecule.
Single-stranded Binding Proteins:
It binds to single-stranded DNA and protects it from forming secondary
structures.
DNA Replication Process in Prokaryotes
The DNA replication in prokaryotes takes place in the following place:
The two strands of DNA unwind at the origin of replication.
Helicase opens the DNA and replication forks are formed.
The DNA is coated by the single-strand binding proteins around the replication
fork to prevent rewinding of DNA.
Topoisomerase prevents the supercoiling of DNA.
RNA primers are synthesised by primase. These primers are complementary to
the DNA strand.
DNA polymerase III starts adding nucleotides at the end of the primers.
The leading and lagging strands continue to elongate.
The primers are removed and the gaps are filled with DNA Polymerase I and
sealed by ligase.
Also read: Theta Mode of Replication
DNA Replication in Eukaryotes
The DNA replication in eukaryotes is similar to the DNA replication in prokaryotes.
However, the initiation process is more complex in eukaryotes than prokaryotes.
In eukaryotes, there are multiple origins of replication present. A pre-replication
complex is made with other initiator proteins. The process is entirely the same
but the enzymes used are different. E.g. in eukaryotes, the polymerisation process
is carried out by the enzyme Pol δ, whereas in prokaryotes it is done by DNA Pol
III.

RNA
RNA is a ribonucleic acid that helps in the synthesis of proteins in our body. This
nucleic acid is responsible for the production of new cells in the human body. It is
usually obtained from the DNA molecule. RNA resembles the same as that of
DNA, the only difference being that it has a single strand unlike the DNA which
has two strands and it consists of an only single ribose sugar molecule in it. Hence
is the name Ribonucleic acid. RNA is also referred to as an enzyme as it helps in
the process of chemical reactions in the body.
Basic Structure of RNA
The ribonucleic acid has all the components same to that of the DNA with only 2
main differences within it. RNA has the same nitrogen bases called the adenine,
Guanine, Cytosine as that of the DNA except for the Thymine which is replaced by
the uracil. Adenine and uracil are considered as the major building blocks of RNA
and both of them form base-pair with the help of 2 hydrogen bonds.
RNA resembles a hairpin structure and like the nucleotides in DNA, nucleotides
are formed in this ribonucleic material(RNA). Nucleosides are nothing but the
phosphate groups which sometimes also helps in the production of nucleotides in
the DNA.
Functions of RNA
Facilitate the translation of DNA into proteins
Functions as an adapter molecule in protein synthesis
Serves as a messenger between the DNA and the ribosomes.
They are the carrier of genetic information in all living cells
Promotes the ribosomes to choose the right amino acid which is required in
building up of new proteins in the body.
Also Read: Difference between deoxyribose and ribose
RNA Types
tRNA – Transfer RNA
The transfer RNA is held responsible for choosing the correct protein or the amino
acids required by the body in-turn helping the ribosomes. It is located at the
endpoints of each amino acid. This is also called as soluble RNA and it forms a link
between the messenger RNA and the amino acid.
rRNA-Ribosomal RNA
The rRNA is the component of the ribosome and are located within the in the
cytoplasm of a cell, where ribosomes are found. In all living cells, the ribosomal
RNA plays a fundamental role in the synthesis and translation of mRNA into
proteins. The rRNA is mainly composed of cellular RNA and are the most
predominant RNA within the cells of all living beings.
mRNA – Messenger RNA.
This type of RNA functions by transferring the genetic material into the ribosomes
and pass the instructions about the type of proteins, required by the body cells.
Based on the functions, these types of RNA is called the messenger RNA.
Therefore, the mRNA plays a vital role in the process of transcription or during the
protein synthesis process.
Transcription Definition
“Transcription is the first step of gene expression that involves the formation of
RNA molecucle from DNA.”
What is Transcription?
It is one of the first processes in gene expression. The genetic information flows
from DNA to protein and this flow of information takes place in a sequential
process of transcription and translation. Only one strand of DNA is copied during
the process of transcription known as the template strand and the RNA
synthesised is called the mRNA.
RNA Polymerase
The RNA polymerase is the main enzyme involved in transcription. It uses single-
strand DNA to synthesize a complementary RNA strand. The DNA-dependent RNA
polymerase binds to the promoter and catalyses the polymerization in the 5’ to 3’
direction on the template strand. Once it reaches the terminator sequence, the
process terminates and the newly synthesised RNA strand is released.
Stages of Transcription
Transcription proceeds in enzymatically catalysed steps i.e.
Initiation
Elongation
Termination
Initiation
RNA polymerase attaches to the DNA molecule and moves along the DNA strand
until it recognises a promoter sequence. These are known as the transcription
start sites. The DNA double helix then unwinds and all the bases on each of the
DNA strands are exposed. This acts as a template for a new mRNA strand.
Elongation
Ribonucleotides are added to the template strand that enables the growth of
mRNA growth.
Termination
RNA polymerase encounters a terminator sequence and the transcription stops.
RNA polymerase then releases the DNA template.
RNA Processing
Capping
A methylated guanine cap is added to protect the mRNA. It involves:
Addition of methylated guanine
It occurs at 5′ end of mRNA transcript
It protects the mRNA from degradation
Polyadenylation
The poly-A tail also protects the mRNA from degradation. It involves:
The endonucleases cleave the mRNA at a specific sequence.
The enzyme polyA polymerase facilitates the addition of several adenine
nucleotides.
Splicing
The non-coding sequences, i.e., the introns are removed by spliceosome excision.
The coding sequences or the exons join together by ligation.
Thus several proteins can be made from a single pre-mRNA. A mature mRNA is
obtained at the end of transcription.
What is the process of transcription?
Transcription is the process in which a DNA sequence is transcribed into an RNA
molecule with the help of enzyme RNA polymerase. One of the DNA strands acts
as a template to make a complementary RNA strand.
Where the transcription start and terminate?
The transcription starts at the 5′-end of the DNA sequence.
Are enhancers necessary for transcription?
Enhancers are regions in eukaryotic cells that help to increase the transcription.
These are not necessarily close to the genes they enhance.
What is the end product of transcription?
An RNA transcript is obtained as an end product of transcription. It can form any
type of RNA such as rRNA, mRNA, non-coding RNA and tRNA. The prokaryotes
form a polycistronic mRNA whereas eukaryotes form a monocistronic mRNA.
What are the promoter sequences?
Promoter sequences are the gene sequences where the DNA transcription begins.
These are located upstream at the 5′ end of the DNA sequence.
What is a Genetic Code?
The genetic code can be defined as the set of certain rules using which the living
cells translate the information encoded within genetic material (DNA or mRNA
sequences). The ribosomes are responsible to accomplish the process of
translation. They link the amino acids in an mRNA-specified (messenger RNA)
order using tRNA (transfer RNA ) molecules to carry amino acids and to read the
mRNA three nucleotides at a time.
Genetic Code Table
The complete set of relationships among amino acids and codons is said to be a
genetic code which is often summarized in a table.
It can be seen that many amino acids are shown in the table by more than one
codon. For example, there are six ways to write leucine in mRNA language.
Note: A codon is a sequence of three nucleotides which together form a unit of
genetic code in a DNA or RNA molecule.
A key point of the genetic code is its universal nature. This indicates that virtually
all species with minor exceptions use the genetic code for protein synthesis.
In other words, genetic code is defined as the nucleotide sequence of the base on
DNA which is translated into a sequence of amino acids of the protein to be
synthesized.
Properties of Genetic Code
Triplet code
A codon or a code word is defined as a group of bases that specify an amino acid.
There is strong evidence, which proves that a sequence of three nucleotides
codes for an amino acid in the protein, i.e., the code is a triplet.
The four bases of nucleotide i.e, (A, G, C, and U) are used to produce three-base
codons. The 64 codons involve sense codons (that specify amino acids). Hence,
there are 64 codons for 20 amino acids since every codon for one amino acid
means that there exist more than code for the same amino acid.
Commaless code
No room for punctuation in between which indicates that every codon is adjacent
to the previous one without any nucleotides between them.
Nonoverlapping code
The code is read sequentially in a group of three and a nucleotide which becomes
a part of triplet never becomes part of the next triplet.
For example
5’-UCU-3’ codes for Serine
5’-AUG-3’ codes for methionine
Polarity
Each triplet is read from 5’ → 3’ direction and the beginning base is 5’ followed by
the base in the middle then the last base which is 3’. This implies that the codons
have a fixed polarity and if the codon is read in the reverse direction, the base
sequence of the codon would reverse and would specify two different proteins.
Degenerate code
Every amino acid except tryptophan (UGG) and methionine (AUG) is coded by
various codons, i.e, a few codons are synonyms and this aspect is known as the
degeneracy of genetic code. For instance, UGA codes for tryptophan in yeast
mitochondria.
Start and Stop Codons
Generally, AUG codon is the initiating or start codon. The polypeptide chain starts
either with eukaryotes (methionine) or prokaryotes (N- formylmethionine).
Non-ambiguous and Universal
The genetic code is non-ambiguous which means a specific codon will only code
for a particular amino acid. Also, the same genetic code is seen valid for all the
organisms i.e. they are universal.
Exceptions to the Code
The genetic code is universal since similar codons are assigned to identical amino
acids along with similar START and STOP signals in the majority of genes in
microorganisms and plants. However, a few exceptions have been discovered and
most of these include assigning one or two of the STOP codons to an amino acid.
What is Translation?
In Molecular Biology, the term translation can be defined as the process of
converting nucleic acid information into amino acids. It also relates to the process
of producing proteins from mRNA templates.
During the process of translation, sequence of nucleotides present on the RNA is
translated into amino acid sequence of proteins. The complete reaction of
translation is carried out by ribosomes, where both ribosomes and tRNA dock on
a matured mRNA transcript and select multiple enzymes in an energy-intensive
process that uses ATP as well as GTP.
Components of Translation
mRNA of both Eukaryotes and Prokaryotes
tRNA – It helps in sending commands or transferring the information between
protein and nucleic acids.
Ribosomes – It contains ribosomal RNA and proteins, therefore, it is called the
manufacturing unit of a cell.
Enzymes: It is required for the formation of a peptide bond between the amino
acids and also to attach amino acids to the accurate tRNA molecules.
Proteins- They are the soluble factors, which are required for proper initiation,
elongation and termination of translation.
Process Translation
Translation proceeds in three different stages or phases and every stage is
associated with different proteins. Both GTP and ATP are the main source of
energy used in this process. The three different stages of translation mechanism
are:
Initiation
Elongation
Termination
What Are Enzymes?
“Enzymes can be defined as biological polymers that catalyze biochemical
reactions.”
The majority of enzymes are proteins with catalytic capabilities crucial to perform
different processes. Metabolic processes and other chemical reactions in the cell
are carried out by a set of enzymes that are necessary to sustain life.
The Initial stage of metabolic process depends upon the enzymes, which react
with a molecule and is called the substrate. Enzymes convert the substrates into
other distinct molecules, which are known as products.
The regulation of enzymes has been a key element in clinical diagnosis because of
their role in maintaining life processes. The macromolecular components of all
enzymes consist of protein, except in the class of RNA catalysts called ribozymes.
The word ribozyme is derived from the ribonucleic acid enzyme. Many ribozymes
are molecules of ribonucleic acid, which catalyze reactions in one of their own
bonds or among other RNAs.
Enzymes are found in all tissues and fluids of the body. Catalysis of all reactions
taking place in metabolic pathways is carried out by intracellular enzymes. The
enzymes in the plasma membrane govern the catalysis in the cells as a response
to cellular signals and enzymes in the circulatory system regulate the clotting of
blood. Most of the critical life processes are established on the functions of
enzymes.
Enzyme Structure
Enzymes are a linear chain of amino acids, which give rise to a three-dimensional
structure. The sequence of amino acids specifies the structure, which in turn
identifies the catalytic activity of the enzyme. Upon heating, the enzyme’s
structure denatures, resulting in a loss of enzyme activity, which typically is
associated with temperature.
Compared to its substrates, enzymes are typically large with varying sizes, ranging
from 62 amino acid residues to an average of 2500 residues found in fatty acid
synthase. Only a small section of the structure is involved in catalysis and is
situated next to the binding sites. The catalytic site and binding site together
constitute the enzyme’s active site. A small number of ribozymes exist which
serve as an RNA-based biological catalyst. It reacts in complex with proteins.
Enzymes Classification
Oxidoreductases
These catalyze oxidation and reduction reactions, e.g. pyruvate dehydrogenase,
catalysing the oxidation of pyruvate to acetyl coenzyme A.
Transferases
These catalyze transferring of the chemical group from one to another
compound. An example is a transaminase, which transfers an amino group from
one molecule to another.
Hydrolases
They catalyze the hydrolysis of a bond. For example, the enzyme pepsin
hydrolyzes peptide bonds in proteins.
Lyases
These catalyze the breakage of bonds without catalysis, e.g. aldolase (an enzyme
in glycolysis) catalyzes the splitting of fructose-1, 6-bisphosphate to
glyceraldehyde-3-phosphate and dihydroxyacetone phosphate.
Isomerases
They catalyze the formation of an isomer of a compound. Example:
phosphoglucomutase catalyzes the conversion of glucose-1-phosphate to glucose-
6-phosphate (phosphate group is transferred from one to another position in the
same compound) in glycogenolysis (glycogen is converted to glucose for energy to
be released quickly).
Ligases
Ligases catalyze the association of two molecules. For example, DNA ligase
catalyzes the joining of two fragments of DNA by forming a phosphodiester bond.
Cofactors
Cofactors are non-proteinous substances that associate with enzymes. A cofactor
is essential for the functioning of an enzyme. An enzyme without a cofactor is
called an apoenzyme. An enzyme and its cofactor together constitute the
holoenzyme.
There are three kinds of cofactors present in enzymes:
Prosthetic groups: These are cofactors tightly bound to an enzyme at all times.
FAD (flavin adenine dinucleotide) is a prosthetic group present in many enzymes.
Coenzyme: A coenzyme binds to an enzyme only during catalysis. At all other
times, it is detached from the enzyme. NAD+ is a common coenzyme.
Metal ions: For the catalysis of certain enzymes, a metal ion is required at the
active site to form coordinate bonds. Zn2+ is a metal ion cofactor used by a
number of enzymes.
Examples of Enzymes
Beverages
Alcoholic beverages generated by fermentation vary a lot based on many factors.
Based on the type of the plant’s product, which is to be used and the type of
enzyme applied, the fermented product varies.
For example, grapes, honey, hops, wheat, cassava roots, and potatoes depending
upon the materials available. Beer, wines and other drinks are produced from
plant fermentation.
Food Products
Bread can be considered as the finest example of fermentation in our everyday
life.
A small proportion of yeast and sugar is mixed with the batter for making bread.
Then one can observe that the bread gets puffed up as a result of fermentation of
the sugar by the enzyme action in yeast, which leads to the formation of carbon
dioxide gas. This process gives the texture to the bread, which would be missing
in the absence of the fermentation process.
Action and Nature of Enzymes:
The enzyme action basically happens in two steps:
Step1: Combining of enzyme and the reactant/substrate.
E+S → [ES]
Step 2: Disintegration of the complex molecule to give the product.
[ES]→E+P
Thus, the whole catalyst action of enzymes is summarized as:
E + S → [ES] → [EP] → E + P
Functions of Enzymes
Enzymes help in signal transduction. The most common enzyme used in the
process includes protein kinase that catalyzes the phosphorylation of proteins.
They break down large molecules into smaller substances that can be easily
absorbed by the body.
They help in generating energy in the body. ATP synthase is the enzyme involved
in the synthesis of energy.
Enzymes are responsible for the movement of ions across the plasma membrane.
Enzymes perform a number of biochemical reactions, including oxidation,
reduction, hydrolysis, etc. to eliminate the non-nutritive substances from the
body.
They function to reorganize the internal structure of the cell to regulate cellular
activities.
Almost all enzymes are proteins, so which enzyme is not a protein?
Ribozyme.
With the exception of ribozymes, all enzymes are protein-based.
Define enzymes.?
Enzymes can be defined as biological polymers that catalyze biochemical
reactions.
What is the induced fit theory?
The concept of induced fit states that when a substrate binds to an enzyme, it
brings about a change in the shape of the enzyme which either enhances or
supresses the activity of the enzyme.
What are the examples of enzymes in plants?
Examples of plant-derived enzymes include amylase, protease and peroxidase.
Can an enzyme be called a polymer?
Yes, most enzymes are made up of proteins which are polymers of amino acids.
What is Protein?
Proteins are very large molecules composed of basic units called amino acids.
Proteins contain carbon, hydrogen, oxygen, nitrogen, and sulphur.
Protein molecules are large, complex molecules formed by one or more twisted
and folded strands of amino acids. Proteins are highly complex molecules that are
actively involved in the most basic and important aspects of life. These include
metabolism, movement, defense, cellular communication, and molecular
recognition.
Functions of Proteins
Positive negative attractions between different atoms in the long amino acid
strand cause it to coil on itself again and again to form its highly complex shape.
Folded proteins may combine with other folded proteins to form even larger
more complicated shapes.
The folded shape of a protein molecule determines its role in body chemistry.
Structural proteins are shaped in ways that allow them to form essential
structures of the body. Collagen, a protein with a fibre shape, holds most of the
body tissues together. Keratin, another structural protein forms a network of
waterproof fibres in the outer layer of the skin.
Functional proteins have shapes that enable them to participate in chemical
processes of the body. Functional proteins include some of hormones, growth
factors, cell membrane receptors, and enzymes.
Classification of Proteins
Protein molecules are large, complex molecules formed by one or more twisted
and folded strands of amino acids. Each amino acid is connected to the next
amino acid by covalent bonds.
Primary (first level) – Protein structure is a sequence of amino acids in a chain.
Secondary (secondary level) – Protein structure is formed by folding and twisting
of the amino acid chain.
Tertiary (third level) – Protein structure is formed when the twists and folds of the
secondary structure fold again to form a larger three dimensional structure.
Quaternary (fourth level) – Protein structure is a protein consisting of more than
one folded amino acid chain.
Cell Definition
“A cell is defined as the smallest, basic unit of life that is responsible for all of life’s
processes.”Characteristics of Cells
Following are the various essential characteristics of cells:
Cells provide structure and support to the body of an organism.
The cell interior is organised into different individual organelles surrounded by a
separate membrane.
The nucleus (major organelle) holds genetic information necessary for
reproduction and cell growth.
Every cell has one nucleus and membrane-bound organelles in the cytoplasm.
Mitochondria, a double membrane-bound organelle is mainly responsible for the
energy transactions vital for the survival of the cell.
Lysosomes digest unwanted materials in the cell.
Endoplasmic reticulum plays a significant role in the internal organisation of the
cell by synthesising selective molecules and processing, directing and sorting
them to their appropriate locations.Types of Cells
Cells are similar to factories with different labourers and departments that work
towards a common objective. Various types of cells perform different functions.
Based on cellular structure, there are two
Types of cells:
Prokaryotes
Prokaryotic cells have no nucleus. Instead, some prokaryotes such as bacteria
have a region within the cell where the genetic material is freely suspended. This
region is called the nucleoid.
They all are single-celled microorganisms. Examples include archaea, bacteria,
and cyanobacteria.
The cell size ranges from 0.1 to 0.5 µm in diameter.
The hereditary material can either be DNA or RNA.
Prokaryotes generally reproduce by binary fission, a form of asexual reproduction.
They are also known to use conjugation – which is often seen as the prokaryotic
equivalent to sexual reproduction (however, it is NOT sexual reproduction).
Eukaryotic Cells
Eukaryotic cells are characterised by a true nucleus.
The size of the cells ranges between 10–100 µm in diameter.
This broad category involves plants, fungi, protozoans, and animals.
The plasma membrane is responsible for monitoring the transport of nutrients
and electrolytes in and out of the cells. It is also responsible for cell to cell
communication.
They reproduce sexually as well as asexually.
There are some contrasting features between plant and animal cells. For eg., the
plant cell contains chloroplast, central vacuoles, and other plastids, whereas the
animal cells do not
Cell Structure
The cell structure comprises individual components with specific functions
essential to carry out life’s processes. These components include- cell wall, cell
membrane, cytoplasm, nucleus, and cell organelles. Read on to explore more
insights on cell structure and function.
Cell Membrane
The cell membrane supports and protects the cell. It controls the movement of
substances in and out of the cells. It separates the cell from the external
environment. The cell membrane is present In all the cells.
The cell membrane is the outer covering of a cell within which all other
organelles, such as the cytoplasm and nucleus, are enclosed. It is also referred to
as the plasma membrane.
By structure, it is a porous membrane (with pores) which permits the movement
of selective substances in and out of the cell. Besides this, the cell membrane also
protects the cellular component from damage and leakage.
It forms the wall-like structure between two cells as well as between the cell and
its surroundings.
Plants are immobile, so their cell structures are well-adapted to protect them
from external factors. The cell wall helps to reinforce this function.
Cell Wall
The cell wall is the most prominent part of the plant’s cell structure. It is made up
of cellulose, hemicellulose and pectin.
The cell wall is present exclusively in plant cells. It protects the plasma membrane
and other cellular components. The cell wall is also the outermost layer of plant
cells.
It is a rigid and stiff structure surrounding the cell membrane.
It provides shape and support to the cells and protects them from mechanical
shocks and injuries.
Cytoplasm
The cytoplasm is a thick, clear, jelly-like substance present inside the cell
membrane.
Most of the chemical reactions within a cell take place in this cytoplasm.
The cell organelles such as endoplasmic reticulum, vacuoles, mitochondria,
ribosomes, are suspended in this cytoplasm.
Nucleus
The nucleus contains the hereditary material of the cell, the DNA.
It sends signals to the cells to grow, mature, divide and die.
The nucleus is surrounded by the nuclear envelope that separates the DNA from
the rest of the cell.
The nucleus protects the DNA and is an integral component of a plant’s cell
structure.
Cell Organelles
Cells are composed of various cell organelles that perform certain specific
functions to carry out life’s processes.
Cell Organelles and their Functions
Nucleolus
The nucleolus is the site of ribosome synthesis. Also, it is involved in controlling
cellular activities and cellular reproduction.
Nuclear membrane
The nuclear membrane protects the nucleus by forming a boundary between the
nucleus and other cell organelles.
Chromosomes
Chromosomes play a crucial role in determining the sex of an individual. Each
human cells contain 23 pairs of chromosomes.
Endoplasmic reticulum
The endoplasmic reticulum is involved in the transportation of substances
throughout the cell. It plays a primary role in the metabolism of carbohydrates,
synthesis of lipids, steroids and proteins.
Golgi Bodies
Golgi bodies are called the cell’s post office as it is involved in the transportation
of materials within the cell.
Ribosome
Ribosomes are the protein synthesisers of the cell.
Mitochondria
The mitochondrion is called “the powerhouse of the cell.” It is called so because it
produces ATP – the cell’s energy currency.
Lysosomes
Lysosomes protect the cell by engulfing the foreign bodies entering the cell and
help in cell renewal. Therefore, they are known as the cell’s suicide bags.
Chloroplast
Chloroplasts are the primary organelles for photosynthesis. It contains the
pigment called chlorophyll.
Vacuoles
Vacuoles store food, water, and other waste materials in the cell.
Cell Theory
Cell Theory was proposed by the German scientists, Theodor Schwann, Matthias
Schleiden, and Rudolf Virchow. The cell theory states that:
All living species on Earth are composed of cells.
A cell is the basic unit of life.
All cells arise from pre-existing cells.
A modern version of the cell theory was eventually formulated, and it contains
the following postulates:
Energy flows within the cells.
Genetic information is passed on from one cell to the other.
The chemical composition of all the cells is the same.
Chromosome
Chromosomes are the genetic material present in all cells. They are present in the
nucleus of a eukaryotic cell. They are a thread-like structure.
Each chromosome of a eukaryotic cell contains DNA and associated proteins,
known as histone proteins. They are responsible for the hereditary traits and
passed from parents to offspring from one generation to another. DNA codes for
specific proteins and are responsible for variations in a species and among various
organisms. Scientists have given this name chromosomes as they are stained
using specific dyes, chroma means colour and soma means body.
Properties of Chromosomes
Humans have 23 pairs of chromosomes. This unique structure of the chromosome
keeps DNA tightly packed with histone proteins to fit inside the cell and it also
helps in giving more stability to it. For instance, the unwound DNA of a single cell
will measure 6 feet, with this, one can understand the need for packaging inside
the nucleus of each cell.
Cells must continuously repair, grow and regenerate to replace the old cells. Cell
division is important for the growth and development of an organism. We can see
chromosomes clearly during cell division. Chromosomes ensure that DNA is
divided equally between the daughter cells during cell division. Even a small
irregularity in the process may lead to various diseases and deformities.
Uncontrolled cell division results in tumour cells and causes cancer. Chromosomal
aberration like changes in structure or number can cause genetic disorders, e.g.
Down’s syndrome, Turner’s syndrome, etc. Defective chromosomes may even
lead to a certain type of leukaemia in humans.
Function of chromosome:
Chromosomes’ primary role is to transport genetic material from one generation
to the next. Chromosomes serve a critical part in the growth, reproduction,
repair, and regeneration processes, all of which are critical for their survival. DNA
is protected by chromosomes from becoming twisted and damaged.
Cell cycle:
A cell cycle is a series of events that takes place in a cell as it grows and divides. A
cell spends most of its time in what is called interphase, and during this time it
grows, replicates its chromosomes, and prepares for cell division. The cell then
leaves interphase, undergoes mitosis, and completes its division.
Cell division:
There are two types of cell division: mitosis and meiosis. Most of the time when
people refer to “cell division,” they mean mitosis, the process of making new
body cells. Meiosis is the type of cell division that creates egg and sperm cells.
Mitosis is a fundamental process for life.
Genetic variation:
Genetic variation is a measure of the genetic differences that exist within a
population. The genetic variation of an entire species is often called genetic
diversity. Genetic variations are the differences in DNA segments or genes
between individuals and each variation of a gene is called an allele.
Gene:
The basic unit of heredity passed from parent to child. Genes are made up of
sequences of DNA and are arranged, one after another, at specific locations on
chromosomes in the nucleus of cells.
Alleles
An allele is a variation of the same sequence of nucleotides at the same place on a
long DNA molecule, as described in leading textbooks on genetics and evolution.
“The chromosomal or genomic location of a gene or any other genetic element is
called a locus and alternative DNA sequences at a locus are called alleles.”
Gene pool
A gene pool refers to the combination of all the genes (including alleles) present
in a reproducing population or species. A large gene pool has extensive genomic
diversity and is better able to withstand environmental challenges.
Mendel’s Laws of Inheritance
Inheritance can be defined as the process of how a child receives genetic
information from the parent. The whole process of heredity is dependent upon
inheritance and it is the reason that the offsprings are similar to the parents. This
simply means that due to inheritance, the members of the same family possess
similar characteristics.
It was only during the mid 19th century that people started to understand
inheritance in a proper way. This understanding of inheritance was made possible
by a scientist named Gregor Mendel, who formulated certain laws to understand
inheritance known as Mendel’s laws of inheritance.
Why was Pea Plant Selected for Mendel’s Experiments?
He selected a pea plant for his experiments for the following reasons:
The pea plant can be easily grown and maintained.
They are naturally self-pollinating but can also be cross-pollinated.
It is an annual plant, therefore, many generations can be studied within a short
period of time.
It has several contrasting characters.Mendel conducted 2 main experiments to
determine the laws of inheritance.
These experiments were:
Monohybrid Cross
Dihybrid Cross
While experimenting, Mendel found that certain factors were always being
transferred down to the offspring in a stable way. Those factors are now called
genes i.e. genes can be called the units of inheritance.
Mendel’s Experiments
Mendel experimented on a pea plant and considered 7 main contrasting traits in
the plants. Then, he conducted both experiments to determine the inheritance
laws. A brief explanation of the two experiments is given below.
Monohybrid Cross
In this experiment, Mendel took two pea plants of opposite traits (one short and
one tall) and crossed them. He found the first generation offspring were tall and
called it F1 progeny. Then he crossed F1 progeny and obtained both tall and short
plants in the ratio 3:1.
Mendel even conducted this experiment with other contrasting traits like green
peas vs yellow peas, round vs wrinkled, etc. In all the cases, he found that the
results were similar. From this, he formulated the laws of Segregation And
Dominance.
Dihybrid Cross
In a dihybrid cross experiment, Mendel considered two traits, each having two
alleles. He crossed wrinkled-green seed and round-yellow seeds and observed
that all the first generation progeny (F1 progeny) were round-yellow. This meant
that dominant traits were the round shape and yellow colour.
He then self-pollinated the F1 progeny and obtained 4 different traits: round-
yellow, round-green, wrinkled-yellow, and wrinkled-green seeds in the ratio
9:3:3:1.
Conclusions from Mendel’s Experiments
The genetic makeup of the plant is known as the genotype. On the contrary, the
physical appearance of the plant is known as phenotype.
The genes are transferred from parents to the offspring in pairs known as alleles.
During gametogenesis when the chromosomes are halved, there is a 50% chance
of one of the two alleles to fuse with the allele of the gamete of the other parent.
When the alleles are the same, they are known as homozygous alleles and when
the alleles are different they are known as heterozygous alleles.
Mendel’s laws
The two experiments lead to the formulation of Mendel’s laws known as laws of
inheritance which are:
Law of Dominance
Law of Segregation
Law of Independent Assortment
Law of Dominance
This is also called Mendel’s first law of inheritance. According to the law of
dominance, hybrid offspring will only inherit the dominant trait in the phenotype.
The alleles that are suppressed are called the recessive traits while the alleles that
determine the trait are known as the dominant traits.
Law of Segregation
The law of segregation states that during the production of gametes, two copies
of each hereditary factor segregate so that offspring acquire one factor from each
parent. In other words, allele (alternative form of the gene) pairs segregate during
the formation of gamete and re-unite randomly during fertilization. This is also
known as Mendel’s third law of inheritance.
Law of Independent Assortment
Also known as Mendel’s second law of inheritance, the law of independent
assortment states that a pair of traits segregates independently of another pair
during gamete formation. As the individual heredity factors assort independently,
different traits get equal opportunity to occur together.
Key Points on Mendel’s Laws
The law of inheritance was proposed by Gregor Mendel after conducting
experiments on pea plants for seven years.
Mendel’s laws of inheritance include law of dominance, law of segregation and
law of independent assortment.
The law of segregation states that every individual possesses two alleles and only
one allele is passed on to the offspring.
The law of independent assortment states that the inheritance of one pair of
genes is independent of inheritance of another pair.
Genetic disorders occur when a mutation (a harmful change to a gene, also
known as a pathogenic variant) affects your genes or when you have the wrong
amount of genetic material. Genes are made of DNA (deoxyribonucleic acid),
which contain instructions for cell functioning and the characteristics that make
you unique.Genetic Disorders
Genetic disorders are due to alterations or abnormalities in the genome of an
organism. A genetic disorder may be caused by a mutation in a single gene or
multiple genes. It can also be due to changes in the number or structure of
chromosomes.
Types of Genetic Disorders
Mendelian Disorder
These disorders occur due to mutations in a single gene and can be easily
detected by pedigree analysis.
These disorders can be autosomal dominant, autosomal recessive, sex-linked
dominant, sex-linked recessive, and mitochondrial.

The most common Mendelian disorders include:

Cystic fibrosis (autosomal recessive)
Haemophilia (sex-linked recessive)
Albinism (autosomal recessive)
Sickle cell anaemia (autosomal recessive)

Chromosomal Disorder
These disorders are caused by any alteration in the number or structure of the
chromosomes.
Sometimes the whole chromosome is gained or lost.

This type of disorder is usually fatal and affects many genes.

Some of the major chromosomal abnormalities are:

Down’s syndrome- the addition of a chromosome 21 (trisomy)
Turner’s syndrome-absence of an X chromosome (XO)
Kleinfelter’s syndrome-addition of an X chromosome (XXY)
Multifactorial Genetic Inheritance
This is also known as polygenic inheritance. These are caused as a result of
environmental factors and gene mutations.
Some of the examples of this kind of disorder are:
Heart disease
High blood pressure
Alzheimer’s disease
Obesity
Diabetes
Cancer
Arthritis
Mitochondrial Inheritance
This type of genetic disorder is caused by mutations in the non-nuclear
mitochondrial DNA. The mitochondrial DNA is inherited from the mother. Some of
the diseases caused due to mitochondrial inheritance are:
Leber’s Hereditary Optic Atrophy (LHON)
Myoclonic epilepsy with ragged red fibres
Mitochondrial encephalopathy
Lactic acidosis
Genetic Counselling
Genetic counselling is one of the remarkable ways of detecting whether a child to
be born will be having a genetic disease, or if the person is going to have a genetic
disorder. Genetic counsellors can help a person with the diagnosis and treatment
of a particular disorder.
Some genetic disorders have been treated by gene therapy. Few of the
techniques are under trial and will soon be implemented in medical science to
cure genetic disorders.
There are many reasons one should go for genetic counselling:
Family history or a previous child with a genetic disease, heart defects, mental
retardation, defect in the neural tube, short height, psychiatric disorders, cancer,
etc.
A parent with an autosomal dominant disease.
If the pregnant lady is 35 years or older.
Mother suffering from any disorder such as depression, alcoholism, diabetes,
thyroid, schizophrenia, etc.
List of Genetic Disorders
Following is the list of genetic disorders that occur in humans:
Cystic fibrosis
Thalassemia
Huntington’s disease
Hemochromatosis
Turner’s syndrome
Kleinfelter’s syndrome
Leber’s Hereditary Optic Atrophy
Cancer
High Blood Pressure
Obesity
Sex Determination in Plants
Mechanisms underlying sex determination in plants are largely unknown. Silene
latifolia is a dioecious species (with separate male and female individuals) which
harbours XY sex chromosomes and constitutes an important model for sex
determination in plants.1–4 Chromosome deletion experiments have shown that
the Y chromosome of Silene latifolia carries two loci involved in sex
determination: the first involved in the suppression of female organ development
and the second involved in the activation of male organ development. Several
attempts to identify the corresponding genes and the regulatory pathways
controlled by these have been unsuccessful.2,5,6
In the dioecious species Silene latifolia, four whorls of floral organs are observed
in both male and female floral meristems, as it is the case for any hermaphrodite
species: sepals, petals, stamens (male reproductive organs) and carpels (female
reproductive organs). At an early stage, the flower meristem is similar in male and
female plants (undifferentiated). As soon as all floral organ primordia are
initiated, the female territory in the centre of the flower meristem is significantly
smaller in male compared to female flower buds. Later, a filament develops in
male flower, in place of female organs. In female flower buds, stamens are
initiated but rapidly degenerate, whereas five fused carpels (female organs)
develop in the centre.7 In this study, we investigated the possible mechanisms
that may lead to female organ arrest in male flowers of S. latifolia.
Sex determination in animals
Biological mechanisms leading to the development of males and females are
extremely varied. In the XX/XY system, the male has an unequal pair of
chromosomes, while in the ZZ/ZW system, the unequal pair is in the female. Sex
can also be determined by the temperature of incubation. Recent research has
focused on the identification of sex-determining genes, culminating in the
demonstration that the Sry gene on the Y chromosome of mice can induce male
development in genetically female XX mouse embryos. Nevertheless, the
occurrence of phenotypes in apparent contrast to the genotype suggests that the
genetic male/female switch is not simple, and there may be common features
linking different sex-determining mechanisms. There is increasing evidence that
such a link may be provided by the induction of growth differences, and that the
primary sex difference may result from the distinction between fast versus slow
growth.
The SRY gene (blue band) on the male Y chromosome regulates sex determination
in mammals. In placental mammals, the presence of a Y chromosome determines
sex. Normally, cells from females contain two X chromosomes, and cells from
males contain an X and a Y chromosome.