GENETICS LEC

STRUCTURE & EXPRESSION OF GENETIC INFORMATION

1. Conservative replication
-after mitosis, the 1st daughter cell contains the parental strand
while the 2nd daughter cell contains the daughter strand.
2. Semiconservative replication
-after mitosis the 1st daughter cell has a parental & daughter
strand; same with the 2nd daughter strand

REQUIREMENTS FOR DNA SYNTHESIS

I.

SUBSTRATE
-gives off energy for the additional nucleotides
4 dNTPs (deoxynucleoside triphosphates) *depends on the
base

II.

dATP- adenine= deoxyadenosine triphosphate

dGTP- guanine= deoxyguanosine triphosphate
dCTP- cystosine= deoxycytidine triphosphate
dTTP- thymine= deoxythymidine triphosphate

TEMPLATE
- directs the addition of appropriate complementary
deoxynucleotide to the newly synthesized DNA strand
- backbone of the new DNA

III.

PRIMER
- Prepares the template strand for addition of nucleotides
- New synthesis is said to occur in a 5 to 3 direction

IV.

ENZYME
- Catalyzed by an enzyme known as DNA-dependent DNA
polymerase / DNA polymerase (also for proof reading
activity)
- Codon (triplet) amino acids proteins DNA

DNA TESTS
1. Sanger method- uses the enzymatic method

- uses bands and is the most common method

2. Fluorescence- based sequencing- uses fluorescence dye and
produces colored peaks
Cytosine= blue
Thymine= red
Guanine= black
Adenine= light green
3. Protein synthesis- lists the codon in order
RULES AND REGULATIONS
1. Coding & template strands have complementary DNA bases.
2. mRNA is complement of DNA template strand, with Uracil for Thymine.
3. mRNA is same as DNA coding strand, with Uracil for Thymine.
DNA coding strand

DNA template

mRNA tRNA

MUTATIONS
-change in a genes nucleotide base sequence that affects less than
1% of a population and can cause a mutant phenotype (unusual
phenotype)
*Polymorphism- more common; does not alter the phenotype
* beta globulin chains & collagen genes- most common location of
mutations
CAUSES OF MUTATIONS
1. Chemical phenomena/ Error in DNA replication
- causes spontaneous mutation (characteristic of a gene that is
likely to occur in repeated/ symmetrical DNA sequence)
2. Mutagens
- chemicals or radiation that delete, substitute or add bases.
- an organism may be exposed to a mutagen intentionally,
accidentally or naturally
TYPES OF MUTATION
1. Point mutation- alters single DNA base (transition or transversion)
2. Missense mutation- substitute one amino acid for another

3. Nonsense mutation- substitutes a stop codon (UAA, UAG, UGA) for a

codon that specifies an amino acid, shortening the protein product.
4. Adding/ deleting genetic material upset the reading frame or
otherwise alter protein function
5. Pseudogene duplicate of a gene mutates. It may disrupt
chromosome pairing causing mutation
6. Transposons disrupt the functions of genes they jump into.
7. Copy number variations DNA sequences that are repeated a
different number of times in different individuals.

Importance of Position
-

mutations in the globin genes may affect the ability of the

blood to transport oxygen

Conditional mutations expressed only in response to certain

environmental triggers
DNA REPAIR
1. Photoreactivation repair uses light energy to split pyrimidine
dimers.
2. Excision repair pyrimidine dimers are removed and the area are
filled in correctly
3. Nucleotide excision replaces up to 30 nucleotides from various
sources of mutation
4. Base excision fixes up to 5 bases that paired incorrectly due to
oxidative damage
5. Mismatch - proofreads newly replicated DNA for loops that indicate
non-complementary base pairings
DNA polymerase active enzyme
Repair enzymes fixes damage