GENETICS

PART 2
 UNLOCKING
DIFFICULTIES
DNA or Deoxyribonucleic acid is double stranded
material that carries genetic information for the
development and functioning of an organism.

RNA or ribonucleic acid is a single stranded material

that stores information and helps in the synthesis of
proteins in our body.

Enzymes are proteins that help speed up chemical

reactions in our bodies.
 CENTRAL DOGMA OF
MOLECULAR BIOLOGY
CENTRAL DOGMA OF MOLECULAR BIOLOGY

The central dogma of molecular biology states that

genetic information flows only in one direction, from
DNA, to RNA, to protein, or RNA directly to protein.

STEPS: Replication, Transcription, and Translation

It is suggested that the information present in a DNA

is essential to make up all proteins and RNA acts
as a messenger that carries information through the
ribosomes.
 CENTRAL DOGMA OF MOLECULAR BIOLOGY

REPLICATION TRANSCRIPTIO TRANSLATION

N
REPLICATION

In DNA replication, the DNA makes multiple copies of

itself.

STEPS: Initiation, Elongation, Termination

Semi-conservative process - the original strand of DNA

acts as a template for the newly synthesized strand.

Enzymes Used: Helicase, Primase, DNA Polymerase

I,II,III, and Ligase
ENZYMES IN REPLICATION

DNA Polymerase I, II, III – repairs, extends, and

proofreads the DNA during replication.

Helicase – unzips/unwinds the DNA strands by breaking

the hydrogen bonds between the nitrogenous bases,
forms the replication fork.

Ligase - enzyme which joins together the Okazaki

fragments of the discontinuous DNA strands.
ENZYMES IN REPLICATION

Primase - This enzyme helps in the synthesis of RNA

primer complementary to the DNA template strand.
DNA REPLICATION
 DNA REPLICATION: INITIATION

The process of replication

starts at the origin of replication
where the enzyme Helicase
unwind/unzip the double
stranded DNA creating the
replication fork.
 DNA REPLICATION:
ELONGATION

As the strands of DNA

separates, the DNA
polymerase synthesizes the
complementary sequence of
the strand, the parental strand
acts as a template for the new
nucleotide sequences.
 DNA REPLICATION:
ELONGATION
In this process, one strand is
continuous (3’  5’ direction)
and follows continuous
replication by DNA. It is called
the leading strand. The other
strand is discontinuous called
lagging strand (5’  3’
direction) and form fragments
called Okazaki fragments.
 DNA REPLICATION:
TERMINATION

During termination, primers are

removed and replaced with
new DNA nucleotides and the
backbone is sealed by the
enzyme ligase. After the ligase
has connected all the nicks, the
newly synthesized DNA
molecule is complete.
 DNA REPLICATION:
TERMINATION

During termination, primers are

removed and replaced with
new DNA nucleotides and the
backbone is sealed by the
enzyme ligase. After the ligase
has connected all the nicks, the
newly synthesized DNA
molecule is complete.
 CENTRAL DOGMA OF MOLECULAR BIOLOGY

REPLICATION TRANSCRIPTIO TRANSLATION

N
TRANSCRIPTION

Transcription is the process by which the information

is transferred from one strand of the DNA to RNA by
the enzyme RNA Polymerase.

The DNA strand that synthesizes the RNA is called

the template strand and the other strand is called
the coding strand.

The RNA polymerase reads and adds nucleotides

from 3’5’ direction.
ENZYME IN TRANSCRIPTION

RNA Polymerase -
RNA polymerase is a
multi-unit enzyme that
synthesizes RNA
molecules from a
template of DNA.
 TRANSCRIPTION: INITIATION

RNA polymerase binds to a

specific sequence within the gene
called promoter.
 As the RNA polymerase moves
along from 3’5’ direction, the
DNA unwinds.
 Half of the DNA strand will act as
the template strand or the
antisense strand and will be
used to synthesize the RNA.
 TRANSCRIPTION: ELONGATION

RNA polymerase reads the

antisense strand from 3’5’
direction and catalyzes the
addition of ribose nucleotides
to the antisense strand
synthesizing the pre-mRNA
strand. The RNA strand is built
from 5’ to 3’.
TRANSCRIPTION: TERMINATION

At the end of the gene,

RNA polymerase
encounters a sequence of
DNA called the termination
signal. RNA polymerase
detaches from the DNA
and releases the pre-
mRNA molecule.
 mRNA PROCESSING

ADDITION OF 5’ INTRON SPLICING

CAP
The 5’cap is a modified The enzyme
guanine (G) POLYADENYLATIO spliceosome cuts the
nucleotide, and it introns (non-coding
N poly(A)
The enzyme regions), exons
protects the transcript
polymerase adds a (coding regions are
from being broken
chain of 100-250 spliced together by the
down.
adenine nucleotides same enzyme.
to the pre-mRNA.
 CENTRAL DOGMA OF MOLECULAR BIOLOGY

REPLICATION TRANSCRIPTIO TRANSLATION

N
 TRANSLATION

Translation is the process by which the mRNA codes for

specific proteins.

It is an active process which requires energy. This

energy is provided by the charged tRNA molecules.

The bases (3s’) on the mRNA (codons) will code for a

specific amino acid.
MATERIALS FOR TRANSLATION

mRNA (messenger RNA) - the genetic material that codes

for specific amino acids.

tRNA (transfer RNA) – helps decode the mRNA, carry

amino acids to the ribosome during protein synthesis.

Ribosomal units - composed of two subunits with

densities of 50S and 30S, translate the codons in mRNA
and serve as a factory where a growing polypeptide chain
is assembled.
 TRANSLATION
TERMINOLOGIES
Codon - A sequence of three consecutive nucleotides in a DNA
or RNA molecule that codes for a specific amino acid.

Amino acids – building blocks of proteins, 20 amino acids

make up proteins found in the human body.

Polypeptide - is a string of amino acids connected together by

peptide bonds. They make up proteins.

Proteins - serve as structural support, biochemical catalysts,

hormones, enzymes, building blocks, and initiators of cellular
death.
 CODONS OF MESSENGER RNA (mRNA)

UGA
AUG UAG
UAA
START CODON STOP CODONS
TRANSLATION: INITIATION

The tRNA brings the

corresponding amino acid to
each codon as the ribosomal
units moves along the mRNA
strand.
TRANSLATION: TERMINATION

Reading of the final mRNA codon

(stop codons) which ends the
synthesis of the polypeptide chain
and release it.

The release factor signals the

ribosomal units to terminate the
translation and release the
polypeptide chain.
AMINO ACID
SEQUENCING
 AMINO ACIDS

An amino acid is an organic

chemical with carbon-
hydrogen bonds.

Amino acids are the monomers

that make up proteins.

Amino acid chains are bonded

by peptide bonds.
 AMINO ACIDS

Chains of amino acids linked by peptide bonds are called

polypeptides.
 AMINO ACIDS

Though more than 200 amino

acids are identified in nature,
only 20 amino acids serve as
building blocks of body
proteins.

They are known as common

amino acids.
COMMON AMINO ACIDS
 SAMPLE PROBLEM

DNA: TAC CGC TCC GCC GTC GAC AAT AAC ACT

mRNA:

AA:
 SAMPLE PROBLEM

DNA:

mRNA: AUG GUG GGG GCA UAC CGA CCC UAA UAG

AA:
 SAMPLE PROBLEM

DNA: TAC TGA TCG ACC CCC ATA ATG AAA ATC

mRNA:

AA:
KARYOTYPING
 KARYOTYPING

Karyotyping is a diagnostic
tool used in medical
genetics to examine the
chromosomes of an
individual to detect any
abnormalities.
KARYOTYPING TECHNIQUES

To make a karyotype,
scientists take a picture of
the chromosomes from a
cell and arrange them in
terms of:
a. Size
b. Banding pattern
c. Centromere positions
 KARYOTYPING

It involves arranging and analyzing the

chromosomes from a cell sample to create a visual
representation of the chromosome complement, known
as a karyogram.

It is an important tool in identifying genetic disorders,

determining the sex of an individual, and studying
evolutionary relationships between species.
 LETS TRY!

Which of the following is best pair

of this chromosome?

A B C D
 LETS TRY!

Which of the following is best pair

of this chromosome?

A B C D
 LETS TRY!

Which of the following is best pair

of this chromosome?

A B C D
CHROMOSOMAL
ABNORMALITIES
HUMAN CHROMOSOMES

Humans typically have 23

pairs of chromosomes, or 46
chromosomes in total.

Any missing or excess

chromosome results to
chromosomal
abnormalities.
 FACTORS OF CHROMOSOMAL
ABSNORMALITIES
Chromosome abnormalities often
happen due to 1 or more of these:

Errors during dividing of sex cells

(meiosis)

Errors during dividing of other cells

(mitosis)
 TRISOMY 21

Down syndrome is a genetic condition

where a person is born with an extra
copy of chromosome 21.

This can affect how their brain and

body develop.

The majority of Down syndrome

cases happen randomly
(sporadically).
TURNER SYNDROME

Turner syndrome happens when a baby assigned

female at birth is born with one missing or partial X
chromosome.

Monosomy X: This type means each cell has only one

X chromosome instead of two.

Mosaic Turner syndrome: An individual’s cell have a

pair of X chromosomes, while other cells only have one
TURNER SYNDROME

Turner syndrome presents

in many ways.

It can cause several

different characteristics —
or features — as well as
certain health conditions,
which can vary in severity.
EDWARDS SYNDROME

Trisomy 18, also called Edwards

syndrome, is a chromosomal
condition associated with
abnormalities in many parts of the
body.

Individuals with trisomy 18 often

have slow growth before birth
(intrauterine growth retardation)
and a low birth weight.
 PATAU SYNDROME

Trisomy 13, also called

Patau syndrome, is a severe
chromosomal condition, with
multiple malformations due
to an additional copy of all or
part of chromosome 13.

The cause of this additional

copy of chromosome 13 is
unknown.
KLINEFELTER SYNDROME

Klinefelter syndrome is a
common genetic condition in
which people assigned male
at birth (AMAB) have an
additional X chromosome.

Symptoms may include

breast growth, infertility,
osteoporosis and learning
difficulties.