HEREDITY &
VARIATION
MOLECULAR GENETICS
Chromosomes
-Strands of DNA that
contain all of the genes an
organism needs to survive
and reproduce.
Genes
-Segments of DNA that
specify how to build a
protein.
History of DNA
-Early scientists thought
protein was the cell’s
hereditary material
because it was more
complex than DNA.
-Proteins were composed
of 20 different amino acids
in long polypeptide chains.
-Chromosomes are made
of both DNA & protein.
-Experiments on
bacteriophage or viruses
proved that DNA was the
cell’s genetic material.
Discovery of DNA
Structure
-Erwin Chargaff showed
the amounts of the four
bases on DNA ( A,T,C,G).
-In a body or somatic cell:
A = 30.3%
T = 30.3%
G = 19.5%
C = 19.9%
Chargaff’s Rule
-Adenine must pair with
Thymine.
-Guanine must pair with
Cytosine.
-The bases form weak
hydrogen bonds.
DNA Structure
-Rosalind
Franklin took
diffraction x-ray
photographs of
DNA crystals.
-In the 1950’s,
Watson & Crick built the
first model of DNA using
Franklin’s x-rays.
DNA
-Two strands coiled called
a double helix.
-Sides made of a pentose
sugar Deoxyribose bonded
to phosphate (PO4)
groups by phosphodiester
bonds.
-Center made of nitrogen
bases bonded together by
weak hydrogen bonds.
-Stands for
Deoxyribonucleic acid
-Made up of subunits
called nucleotides.
-Nucleotide made of:
1. Phosphate group
2. 5-carbon sugar
3. Nitrogenous base
Pentose Sugar
-Carbons are numbered
clockwise 1’ to 5’
Antiparallel Strands
-One strand of
DNA goes from
5’ to 3’ (sugars).
-The other strand is
opposite in direction going
3’ to 5’ (sugars).
Nitrogenous Bases
-Double ring PURINES
*Adenine (A)
*Guanine (G)
-Single ring PYRIMIDINES
*Thymine (T)
*Cytosine (C)
Base-Pairings
-Purines only pair with
Pyrimidines
-Three hydrogen bonds
required to bond Guanine
& Cytosine
-Two hydrogen bonds are
required to bond Adenine
& Thymine.
DNA Replication
Replication Facts
-DNA has to be copied
before a cell divides.
-DNA is copied during the
S or synthesis phase of
interphase.
-New cells will need
identical DNA strands.
Synthesis Phase (S
phase)
-S phase during interphase
of the cell cycle.
-Nucleus of eukaryotes
DNA Replication -Every DNA molecule is
-Replication = DNA copies half “old” & half “new”. Transcription
itself exactly (Occurs
within the nucleus) 1.Uncoil & unzip DNA -Double
-Any mistake in copying = molecule. stranded
mutation -Enzyme (helicase) breaks DNA must
-DNA mutation = weak Hydrogen Bond be
chromosomal mutation between bases. TRANSCRIBED Into
Single stranded RNA.
The Central Dogma of DNA Replication
DNA RNA
Molecular Genetics -Enzyme Helicase unwinds
-idea that the sequence and separates the 2 DNA deoxyribose ribose
involved in the expression strands by breaking the
of hereditary weak hydrogen bonds. A,C,G,T A,C,G,U
characteristics is from -Single-Strand Binding double stranded single stranded
DNA to RNA to protein. Proteins attach and keep
-It involves three (3) the 2 DNA strands nucleus cytoplasm
processes: separated and untwisted. There are three main
*replication differences
*transcription 2. Enzyme brings in between RNA and DNA:
*protein synthesis complementary -The sugar in RNA is
Nitrogen-bases. ribose instead of
1. Complementary deoxyribose.
base pairing 3. Insert Nitrogen -RNA is generally
-makes replication -bases single-stranded.
possible -RNA contains uracil in
C-G Replication place of thymine.
A-T
2. One side of DNA Translation
molecule is a template The Central -Now…to make proteins
for making the other side Dogma of from the mRNA ,
(strand). Molecular -This is called: Translation
Genetics -The mRNA codes for
Semi-conservative -idea that the sequence certain amino acids.
replication involved in the expression -Strings of amino acids are
Each new DNA of hereditary proteins.
molecule contains characteristics is from
one old strand & DNA to RNA to protein. GENE MUTATION
one new strand -It involves three (3) -Changes in the
processes: nucleotide sequence of
DNA Replication *replication DNA.
-Each parent strand *transcription -May occur in somatic
remains intact. *translation (protein cells (aren’t passed to
synthesis) offspring).
-May occur in gametes Albinism
(eggs & sperm) and be
passed to offspring.

Are Mutations Helpful or

Harmful?
-Mutations happen
regularly.
-Almost all mutations are
neutral.
-Chemicals & UV
radiation cause
mutations.
-Many mutations are
repaired by enzymes.
-Some type of skin
cancers and leukemia
result from somatic
mutations.
-Some mutations may
improve an organism’s
survival (beneficial).
Types of Gene Mutations
Include:
-Substitutions
-Insertions
-Deletions
Point Mutation or Single
Base Substitution
-One base is incorrectly
added during replication &
replaces the pair in the
corresponding position.
Insertion
-one or more nucleotides
are inserted into replicating
DNA.
Huntington’s Disease
Fragile X syndrome
Frameshift Mutation
-Deletion:
-one or more nucleotides
are “skipped” during
replication.
Cystic Fibrosis
-incurable hereditary
disorder that causes the
body to secrete an
abnormally thick, sticky
mucus that clogs the
pancreas and the lungs,
leading to problems with
breathing & digestion,
infection, and ultimately,
death.

on the complementary
strand.
-Sickle Cell disease is the
result of one nucleotide
substitution.
-Occurs in the hemoglobin
gene.