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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.
UNLOCKING DIFFICULTIES
NUCLEOTIDES Nucleotides are organic
molecules composed of a
nitrogenous base, a
pentose sugar and a
phosphate. They serve as
monomeric units of the
nucleic acid polymers
UNLOCKING DIFFICULTIES
NUCLEOTIDES
UNLOCKING DIFFICULTIES
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 TRANSCRIPTION TRANSLATION
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
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.
ENZYMES IN REPLICATION
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 TRANSCRIPTION TRANSLATION
PROTEIN
SYNTHESIS
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.
RNA Polymerase -
RNA polymerase is a
multi-unit enzyme that
synthesizes RNA
molecules from a
template of DNA.
ENZYME IN TRANSCRIPTION
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’ CAP
POLYADENYLATION
INTRON SPLICING
The 5’cap is a modified
guanine (G)
nucleotide, and it
protects the transcript
from being broken
down.
The enzyme poly(A)
polymerase adds a
chain of 100-250
adenine nucleotides
to the pre-mRNA.
The enzyme
spliceosome cuts the
introns (non-coding
regions), exons
(coding regions are
spliced together by the
same enzyme.
CENTRAL DOGMA OF MOLECULAR BIOLOGY
REPLICATION TRANSCRIPTION TRANSLATION
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.
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.
MATERIALS FOR TRANSLATION
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.
TRANSLATION TERMINOLOGIES
CODONS OF MESSENGER RNA (mRNA)
START CODON STOP CODONS
AUG
UGA
UAG
UAA
TRANSLATION: INITIATION
The tRNA (Transfer RNA)
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.

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GENETICS- CENTRAL DOGMA OF MOLECULAR BIOLOGY

  • 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.
  • 3. UNLOCKING DIFFICULTIES NUCLEOTIDES Nucleotides are organic molecules composed of a nitrogenous base, a pentose sugar and a phosphate. They serve as monomeric units of the nucleic acid polymers
  • 7. 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.
  • 8. CENTRAL DOGMA OF MOLECULAR BIOLOGY REPLICATION TRANSCRIPTION TRANSLATION
  • 9. 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 REPLICATION
  • 10. 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
  • 11. Primase - This enzyme helps in the synthesis of RNA primer complementary to the DNA template strand. ENZYMES IN REPLICATION
  • 13. 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.
  • 14. 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.
  • 15. 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.
  • 16. 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.
  • 17. 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.
  • 18. CENTRAL DOGMA OF MOLECULAR BIOLOGY REPLICATION TRANSCRIPTION TRANSLATION PROTEIN SYNTHESIS
  • 19. 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.
  • 20. RNA Polymerase - RNA polymerase is a multi-unit enzyme that synthesizes RNA molecules from a template of DNA. ENZYME IN TRANSCRIPTION
  • 21. 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.
  • 22. 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’.
  • 23. 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.
  • 24. mRNA PROCESSING ADDITION OF 5’ CAP POLYADENYLATION INTRON SPLICING The 5’cap is a modified guanine (G) nucleotide, and it protects the transcript from being broken down. The enzyme poly(A) polymerase adds a chain of 100-250 adenine nucleotides to the pre-mRNA. The enzyme spliceosome cuts the introns (non-coding regions), exons (coding regions are spliced together by the same enzyme.
  • 25.
  • 26. CENTRAL DOGMA OF MOLECULAR BIOLOGY REPLICATION TRANSCRIPTION TRANSLATION
  • 27. 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.
  • 28. 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. MATERIALS FOR TRANSLATION
  • 29. 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. TRANSLATION TERMINOLOGIES
  • 30. CODONS OF MESSENGER RNA (mRNA) START CODON STOP CODONS AUG UGA UAG UAA
  • 31. TRANSLATION: INITIATION The tRNA (Transfer RNA) brings the corresponding amino acid to each codon as the ribosomal units moves along the mRNA strand.
  • 32. 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.
  • 34. 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.
  • 35. AMINO ACIDS Chains of amino acids linked by peptide bonds are called polypeptides.
  • 36. 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.
  • 38.
  • 39.
  • 40. SAMPLE PROBLEM DNA: TAC CGC TCC GCC GTC GAC AAT AAC ACT mRNA: AA:
  • 41. SAMPLE PROBLEM DNA: mRNA: AUG GUG GGG GCA UAC CGA CCC UAA UAG AA:
  • 42. SAMPLE PROBLEM DNA: TAC TGA TCG ACC CCC ATA ATG AAA ATC mRNA: AA:
  • 44. KARYOTYPING Karyotyping is a diagnostic tool used in medical genetics to examine the chromosomes of an individual to detect any abnormalities.
  • 45. 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
  • 46. 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.
  • 47. LETS TRY! Which of the following is best pair of this chromosome? A B C D
  • 48. LETS TRY! Which of the following is best pair of this chromosome? A B C D
  • 49. LETS TRY! Which of the following is best pair of this chromosome? A B C D
  • 51. HUMAN CHROMOSOMES Humans typically have 23 pairs of chromosomes, or 46 chromosomes in total. Any missing or excess chromosome results to chromosomal abnormalities.
  • 52. 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)
  • 53. 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).
  • 54. 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
  • 55. 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.
  • 56. 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.
  • 57. 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.
  • 58. 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.

Editor's Notes

  1. The replication fork is a very active area where DNA replication takes place. 
  2. The numbers 3′ and 5′ refer to the number of carbon atoms in a deoxyribose sugar molecule that a phosphate group binds to.
  3. E-P-A site ( Aminoacyl site, peptidyl site, exit site)