DNA & RNA

Nucleic Acids
 DNA
Discovery
Phoebus Levene, Russian
Biochemist
–Discovered carbohydrate components
of DNA & RNA (Deoxyribose
&Ribose)
–Discovered the order of three major
components of a single nucleotide
(phosphate- sugar-base)
–Called each unit a nucleotide, linked
together through phosphate group
Albrecht Kossel
–German biochemist
–Isolated and
described five
organic compounds
in the structure of
nucleic acid (five
nucleobases)
DNA & RNA
Nucleic Acids
 What are they ?

The source of genetic

information in
chromosomes
 What are they made of ?

• Simple units called nucleotides,

connected in long chains
• Nucleotides have 3 parts:
1- 5-Carbon sugar (pentose)
2- Nitrogen containing base
(made of C, H and N)
3- A phosphate group ( P )
• The P groups make the links that
unite the sugars (hence a “sugar-
phosphate backbone”
Bonding 2 11

PO4
PO4
adenine thymine

PO4
PO4
cytosine guanine

PO4
PO4

PO4
PO4
Chromosomes
 DNA vs RNA
• DNA RNA
- Deoxyribose
sugar - Ribose sugar
- Bases: - Bases:
Adenine, Adenine,
Thymine,
Cytosine, Uracyl,
Guanine Cytosine,
- Double-
stranded helix Guanine
arrangement
- Single
stranded
Mutations
 What Are Mutations?
Changes in the nucleotide
sequence of DNA
May occur in gametes (eggs &
sperm) and be passed to offspring
It can affect a single gene or
many genes in the entire
chromosomes.
Are Mutations Helpful
or Harmful?
Some type of skin
cancers and leukemia
result from somatic
mutations
Some mutations may
improve an organism’s
survival (beneficial)
Types of
Mutations
Chromosome Mutations

May Involve:
Changing the
structure of a
chromosome
The loss or gain
of part of a
chromosome
 Types of Chromosome
Mutation
Five types exist:
Deletion
Inversion
Translocation
Nondisjunction
Duplication
Deletion
Due to
breakage of
DNA molecule
A piece of a
chromosome is
lost
 Cri-du-chat
It is a disorder known as
chromosomes 5p deletion
syndrome..
Deletion of material on 5th
chromosome
Characterized by the cat-
like cry made by cri-du-chat
babies ( the cry of the
infants is similar to that of a
cat’s cry due to problems
with their voice box and
nervous system.
 Inversion
Occurs when a part of the DNA segment
within the chromosome change in
direction..
Chromosome segment breaks off
Segment flips around backwards
Segment reattaches
 Inversion
Hemophilia A, bleeding disorder
caused by factor VIII
deficiency, is a result of the
arrangement ( inversion) of a
section of the long arm of the X
chromosome.
Duplication
Occurs when a gene
sequence have
been repeated
several to many
times.
Charcot- Marie – Tooth
diease
-disease caused by
duplication.
 Translocation
Happens when a piece
of one chromosome
moves to a
nonhomologous pair
chromosomes
(Part of one
chromosome is
transferred to
another
chromosomes)
 Translocation
The figure show that
a broken part of a
chromosomes is
attached to a
different
chromosomes
 Translocation
Translocation can
cause severe problem
such as cancer and
leukemia
 Nondisjunction
Failure of chromosomes to separate
during meiosis
Causes gamete to have too many or too
few chromosomes
Disorders:
Down Syndrome – three 21st chromosomes
Turner Syndrome – single X chromosome
Klinefelter’s Syndrome – XXY chromosomes
 Chromosome
Mutation Animation
 Gene Mutations
Change in the nucleotide
sequence of a gene
May only involve a single
nucleotide
May be due to copying
errors, chemicals, viruses,
etc.
 Types of Gene Mutation
Includes:
Point Mutations
Substitutions
Insertions
Deletions
Frameshift
 Point Mutation
Change of a single nucleotide
Includes the deletion,
insertion, or substitution of
ONE nucleotide in a gene
 Point Mutation
Sickle Cell disease
is the result of
one nucleotide
substitution
Occurs in the
hemoglobin gene
 Frameshift
Mutation
Inserting or deleting one or
more nucleotides
Changes the “reading frame”
like changing a sentence
Proteins built incorrectly
 Frameshift Mutation

Original:
The fat cat ate the wee rat.
Frame Shift (“a” added):
The fat caa tet hew eer at.
Amino Acid Sequence
Changed
Gene Mutation
Animation
POLYDACTYLE
Female with Down’s
Syndrome
 Sex Chromosome
Abnormalities
Klinefelter’s
Syndrome
Male
Sterility
Small testicles
Breast enlargement
 Sex Chromosome Abnormalities
XYY Syndrome
Normal male traits
Often tall and thin
Associated with antisocial and behavioral
problems
 Sex Chromosome
Mutations
Turner’s
Syndrome
Female
sex organs don't mature
at adolescence
sterility
Short stature
 Sex Chromosome Mutations
XXX
Trisomy X
Female
Little or no visible
differences
tall stature
learning disabilities
limited fertility