GENETICS

- Study of heredity

- Heredity is a biological process whereby parents pass

off genes to their offspring

- Inheritance of traits is made possible by the nucleic

acids, DNA and RNA, which can be found in the
organism’s cells.

Central Dogma of Life

o Describes the flow of
genetic information in
the cell from genes to
mRNA to proteins

o Also known to be as the

regulation of gene
expression
(Transcription and
Translation)

CODON

o Three nucleic base pairs that can be

translated into an amino acid through the
codon wheel

o START codon: AUG (Met)

o 3 STOP codons: UAA, UAG, UGA

o 64 possible codons

Chargaff’s Rule

● The different nitrogenous bases form a specific pair and would result to uniform structure within
the entire length of a long helix
● Hydrogen bonds connect the nitrogenous base pairs, making the double helix stable
● A – T (2 hydrogen bonds)
● C – G (3 hydrogen bonds)

GENE EXPRESSION
1. Transcription
● Occurs in the nucleus
● Genes of the DNA is transcribed into mRNA through the help of RNA Polymerase
 ● Main transcription enzyme and build a new RNA molecule through base pairing
● RNA strand is complementary to template strand
● Initiation - RNA polymerase binds to an area of the DNA called the promoter
○ Each gene has its own specific promoter
● Elongation - RNA gets longer due to addition of nucleotide bases
● Termination - Stops transcribing due to terminators (rho factor or C-G base pairs due to
stronger hydrogen bonds)
2. Translation - Occurs in the cytoplasm (ribosomes, specifically)
○ mRNA is translated to amino acids (decoding refer to codon wheel or chart)
○ tRNA – brings amino acid to the chain
2. Genetic Mutations

● When there is a change in the structure of genetic material in DNA sequence that may or may
not be inherited
● Caused by some induced factors such as high energy radiation, toxic chemicals, extreme
temperatures and even radioactive substances known as mutagens

Types of Mutations

1. Point Mutations
- Type of mutation that cause a change in an amino acid in a polypeptide chain
a. Silent Mutation - Nucleotide is substituted but still the same amino acid is produced
Original: ACU CCA GAC
Mutated: ACU CCC GAC
b. Missense Mutation - Nucleotide is substituted by and results to different codon that
corresponds to different amino acid
Original: ACU CCA GAC
Mutated: ACU CCC GCC
c. Nonsense Mutation - Nucleotide is substituted and results to the formation of stop
codon instead of a codon in coding an amino acid
Original: ACU CCA AAA
Mutated: ACU CCC UAA
2. Frameshift Mutation
This type of mutation affects only one nitrogen base by either being completely deleted or extra
one is inserted into the middle of sequence of DNA
a. Insertion - A single nitrogenous base is added in the middle of the sequence so that
wrong amino acid is translated and alters the protein
Original: CAG UCC ACU
Mutated: CAG GUC CAC G
b. Deletion - A nitrogenous base is deleted or taken out of the sequence of amino acid
CAG UCC ACU
CAG CCA CU
3. Chromosomal Mutations
- Alteration r error which cause change in the structure or number of chromosome
- May either be hereditary of environmentally induced
 a. Deletion - A portion of a chromosome is omitted and genes are lost permanently (E.g.
Cri du chat (Chr # 5))
b. Insertion - A portion of a chromosome is added to another chromosome
c. Inversion - The order of genes in the chromosome is reversed
d. Duplication - A portion of the chromosome is repeated and doubled in the same
chromosome
e. Translocation - Chromosome segments change positions
f. Aneuploidy – monosomy (n – 1) or trisomy (n + 1)

Chromosomes - thread like structures where DNA is

packed

● Autosomes – Chromosomes 1-22

● Sex Chromosomes – chromosome 23 (XX –
female; XY- Male)

Anatomy of Chromosomes:

● Centromere - point where sister chromatids are

joined together
● P arm - short arm; upward
● Q arm - long arm; downward
● Telomere - tips of chromosome

Karyotyping and Karyogram

Karyotype – number and appearance of chromosomes

(length, banding pattern, centromere position)

Karyogram – photograph of chromosomes

● DNA error and damages are prevented by proofereading and repair mechanisms. If the mutation
still slips through, sometimes the cell proceeds with the programmed cell death known as
apoptosis.
● Proofreading - During DNA synthesis, most DNA polymerases "check their work," fixing the
majority of mispaired bases in a process called proofreading. If the polymerase detects that a
wrong (incorrectly paired) nucleotide has been added, it will remove and replace the nucleotide
right away, before continuing with DNA synthesis
● Mismatch Repair - A few mispaired bases slip through
○ Remove and replace mispaired bases
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