GENETICS

 Genetics is the branch of biology that deals with the study of heredity
and its biological process. It also involves the study of genes, genomes
and the cell cycle.
 Genetics is termed as the study to understand the functioning of
inheritance of traits from parents to offspring.
 The groundwork on which heredity stands is known as inheritance. It
is defined as the procedure by which characteristics are handed down
from one generation to the other.
 Gregor Johann Mendel is known as the “Father of Modern Genetics”
for his discoveries on the basic principles of heredity.
 Inheritance is the acquiring of genetic characteristics or traits from
parents by their offspring.
GENETIC CODES
 How is the information in a gene encoded? The answer is
the 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.
 The genetic code consists of the sequence of nitrogen
bases—A(adenine), C(cytosine), G(guanine), U(uracil)
—in an mRNA chain.
 The four bases make up the “letters” of the genetic code.

 The letters are combined in groups of three to form code

“words,” called codons.
 Each codon stands for (encodes) one amino acid, unless
it codes for a start or stop signal.
 There are 20 common amino acids in proteins. There are
64 possible codons, more than enough to code for the 20
amino acids. The genetic code is shown in Figure below.
 The genetic code is shown in Figure below.
READING THE GENETIC CODE

 As shown in Figure above, the codon AUG codes for the

amino acid methionine. This codon is also the start codon
that begins translation.
 The start codon establishes the reading frame of mRNA. The
reading frame is the way the letters are divided into codons.
 After the AUG start codon, the next three letters are read as
the second codon. The next three letters after that are read as
the third codon, and so on.
 This is illustrated in Figure below. The mRNA molecule is
read, codon by codon, until a stop codon is reached.
 UAG, UGA, and UAA are all stop codons. They do not code
for any amino acids. Stop codons are also known as
termination codons.
CHARACTERISTICS OF THE GENETIC CODE

 The genetic code is universal. All known living

organisms use the same genetic code. This shows that all
organisms share a common evolutionary history.
 The genetic code is unambiguous. Each codon codes for
just one amino acid.
 The genetic code is redundant. Most amino acids are
encoded by more than one codon.
TRANSMISSION OF GENETIC
INFORMATION
 Inheritance is the transmission of genetic information
from parents to offspring.
 Most of the genetic information is located on the
chromosomes. The principles of chromosomal
inheritance were first discovered experimentally by
Gregor Mendel in 1865 and rediscovered by Correns,
von Tschermak and de Vries in 1900.
TRANSMISSION OF GENETIC INFORMATION
CONT…
 Genetic information is transmitted among organisms through two
pathways –
 vertically from generation to generation (from parents to progeny)
and horizontally (laterally) by direct exchange of genetic material
across species barriers.
 These are primarily prokaryotes, in which the exchange of genes or
whole gene segments by horizontal transmission is quite common.
 They can dynamically and in a relatively short time generate highly
diverse genomes, which does not allow the vertical transmission.
 As a result, prokaryotes can rapidly acquire new properties such as
virulence and pathogenicity as well as resistance to toxins,
including antibiotics, by which they increase their adaptability.
 Therefore, reinfection-resistant microorganisms are always more
difficult to treat than infections caused by non-resistant bacteria.
EXPRESSION OF GENETIC
INFORMATION

 Genes act by determining the structure of proteins, which are

responsible for directing cell metabolism through their activity
as enzymes.
 The identification of DNA as the genetic material and the
elucidation of its structure revealed that genetic information
must be specified by the order of the four bases that make up
the DNA molecule.
 Proteins, in turn, are polymers of 20 amino acids, the sequence
of which determines their structure and function.
 The first direct link between a genetic mutation and an
alteration in the amino acid sequence of a protein was made in
1957, when it was found that patients with the inherited disease
sickle-cell anemia had hemoglobin molecules that differed from
normal ones by a single amino acid substitution.
 DNA CLONING
 DNA cloning is a molecular biology technique that makes many
identical copies of a piece of DNA, such as a gene.
 In a typical DNA cloning procedure, the gene or other DNA
fragment of interest (perhaps a gene for a medically important
human protein) is first inserted into a circular piece of DNA called a
plasmid. The insertion is done using enzymes that “cut and paste”
DNA, and it produces a molecule of recombinant DNA, or DNA
assembled out of fragments from multiple sources.
STEPS OF DNA CLONING
 DNA cloning is used for many purposes. As an example,
let's see how DNA cloning can be used to synthesize a
protein (such as human insulin) in bacteria. The basic
steps are:
1.Cut open the plasmid and "paste" in the gene. This
process relies on restriction enzymes (which cut DNA)
and DNA ligase (which joins DNA).
2.Insert the plasmid into bacteria. Use antibiotic selection
to identify the bacteria that took up the plasmid.
3.Grow up lots of plasmid-carrying bacteria and use them
as "factories" to make the protein. Harvest the protein
from the bacteria and purify it.
1. CUTTING AND PASTING DNA
 A common method uses two types of enzymes:
restriction enzymes and DNA ligase.
 A restriction enzyme is a DNA-cutting enzyme that
recognizes a specific target sequence and cuts DNA into
two pieces at or near that site. Many restriction enzymes
produce cut ends with short, single-stranded overhangs.
If two molecules have matching overhangs, they can
base-pair and stick together. However, they won't
combine to form an unbroken DNA molecule until they
are joined by DNA ligase, which seals gaps in the DNA
backbone.
 Using a carefully chosen restriction enzyme, we digest:
1.The plasmid, which has a single cut site
2.The target gene fragment, which has a cut site near each end
Then, we combine the fragments with DNA ligase, which links them to
make a recombinant plasmid containing the gene.
2. BACTERIAL TRANSFORMATION AND SELECTION
 Plasmids and other DNA can be introduced into bacteria, such as the
harmless E. coli used in labs, in a process called transformation.
 During transformation, specially prepared bacterial cells are given a
shock (such as high temperature) that encourages them to take up
foreign DNA.
 A plasmid typically contains an antibiotic resistance
gene, which allows bacteria to survive in the presence of
a specific antibiotic.

3.PROTEIN PRODUCTION
 Once we have found a bacterial colony with the right
plasmid, we can grow a large culture of plasmid-bearing
bacteria. Then, we give the bacteria a chemical signal
that instructs them to make the target protein.
USES OF DNA CLONING
 DNA molecules built through cloning techniques are
used for many purposes in molecular biology.
 Biopharmaceuticals. DNA cloning can be used to make
human proteins with biomedical applications, such as the
insulin mentioned above.
 Other examples of recombinant proteins include human
growth hormone, which is given to patients who are
unable to synthesize the hormone.
 Tissue plasminogen activator (tPA), which is used to
treat strokes and prevent blood clots. Recombinant
proteins like these are often made in bacteria.

 Gene therapy. In some genetic disorders, patients lack
the functional form of a particular gene. Gene therapy
attempts to provide a normal copy of the gene to the
cells of a patient’s body.
 For example, DNA cloning was used to build plasmids
containing a normal version of the gene that's
nonfunctional in cystic fibrosis. When the plasmids were
delivered to the lungs of cystic fibrosis patients, lung
function deteriorated less quickly
 Gene analysis. In basic research labs, biologists often
use DNA cloning to build artificial, recombinant
versions of genes that help them understand how normal
genes in an organism function.
 SINGLE GENE DISORDERS

 A single gene disorder is caused by variations (or

mutations) in the DNA sequence of a specific gene. The
DNA changes affect the product that the gene codes for
—usually a protein—causing it to be altered or missing.
 The features of each disorder are related to the specific
gene that is affected and the job that the protein has in
the body.
 Some genetic disorders are so serious that children who
have them are extremely sick or cannot survive after
birth. Others are relatively easy to manage with proper
care.
SINGLE GENE DISORDERS CAN BE INHERITED
FROM PARENTS
 Because they are caused by specific gene variations,
many single-gene disorders run in families. When one or
both parents are carriers of a genetic disorder, they have
a chance of passing it to their children—even if they
themselves are healthy.
 The chance of a person passing a genetic disorder to
their children depends on the characteristics of the
disease, including the inheritance pattern.
 If someone knows that a genetic disorder runs in their
family, they can have a genetic test to find out if they
have disease-causing gene variations.
TESTING FOR SINGLE GENE
DISORDERS

 For many single-gene disorders, the genetic basis is well

understood, and the disease-causing gene variants can be
identified with genetic testing. People are tested for two
main reasons: to find out if they have a particular genetic
disorder, or to find out if they are a carrier.
 Making a diagnosis

 A doctor may order testing for a specific disorder or set

of disorders based on a person's symptoms or
characteristics.
 newborn genetic screening
 Identifying carrier status
 Genetic testing can also reveal whether a person is a
carrier of a genetic disorder. A carrier does not have the
disorder themselves, but they have an increased risk of
having a child with the disorder.
 Carriers of a genetic disorder who wish to have a child
can use preimplantation genetic testing to greatly
increase their chances of having a healthy baby.