GENETICS

Genetics
- Study of heredity
- Heredity is a biological process
whereby parents pass off genes
to their offspring
Anti parallel DNA
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 HB)
• C – G (3 HB)
Central Dogma
of Life
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)
Did you know?
Each cell in the human body
contains about 25,000 to
35,000 genes.
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, Elongation, Termination
TRANSCRIPTION
• Initiation
• RNA polymerase binds to an area of
the DNA called the promoter
• Each gene has its own specific
promoter
• Elongation
• RNA gets longer
• Termination
• Stops transcribing due to terminators
(rho factor or C-G bp)
TRANSLATION
• Occurs in the cytoplasm (ribosomes, specifically)
• mRNA is translated to amino acids (decoding)
• tRNA – brings amino acid to the chain
TRANSLATION

peptide chain 1 2
translation
tRNA
initiation
complex
large ribosomal
subunit

Small ribosomal
subunit
CODONS
o Three nucleic base pairs that
can be translated into an
amino acid through the codon
wheel/chart
o START codon: AUG (Met)
o 3 STOP codons: UAA, UAG,
UGA
o 64 possible codons
 Amino acid
Alanine Ala
Arginine Arg
Asparagine Asn
Aspartic acid Asp
Cysteine Cys
Glutamine Gln
Glutamic acid Glu
Glycine Gly
Histidine His
Isoleucine Ile
Leucine Leu
Lysine Lys
Methionine Met
Phenylalanine Phe
Proline Pro
Serine Ser
Threonine Thr
Tryptophan Trp
Tyrosine Tyr
Valine Val
 Amino acid
Alanine Ala
Arginine Arg
Asparagine Asn
Aspartic acid Asp
Cysteine Cys
Glutamine Gln
Glutamic acid Glu
Glycine Gly
Histidine His
Isoleucine Ile
Leucine Leu
Lysine Lys
Methionine Met
Phenylalanine Phe
Proline Pro
Serine Ser
Threonine Thr
Tryptophan Trp
Tyrosine Tyr
Valine Val

24 25 27 29 30
Genetic
Mutations
 MUTATION
• 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
Scientists found an
increase in leg, antennae
and wing shape
mutations among
butterflies collected
following the 2011
Fukushima accident.

By comparing mutations found on the butterflies

collected from the different sites, the team found that
areas with greater amounts of radiation in the
environment were home to butterflies with much
smaller wings and irregularly developed eyes.

https://www.bbc.com/news/science-environment-19245818
 types of
MUTATIONS
Point Mutation
Frameshift Mutation
Chromosomal Mutation
 types of
MUTATIONS
Point Mutation
• This type of mutation
will cause a change in
an amino acid in a
polypeptide chain
 types of
POINT MUTATIONS
1. Silent Mutation
• Nucleotide is substituted but
still the same amino acid is
produced
Original: ACU CCA GAC

Mutated: ACU CCC GAC Both of which

Slide 17 coded Proline.
 types of
POINT MUTATIONS
2. Missense Mutation
• Nucleotide is substituted by and
results to different codon that
corresponds to different amino acid
Original: ACU CCA GAG
Valine instead of
Mutated: ACU CCC GUG Glutamic Acid

Slide 17
 types of
POINT MUTATIONS
3. 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

Slide 17
 types of
MUTATIONS
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
 types of
FRAMESHIFT MUTATIONS
1. 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

Slide 17
 types of
FRAMESHIFT MUTATIONS
2. Deletion
• A nitrogenous base is deleted or
taken out of the sequence of amino
acid
• CAG UCC ACU

• CAG CCA CU
Slide 17
 types of
MUTATIONS
Chromosomal Mutation
• Alteration or error which cause
change in the structure or
number of chromosomes
• May either be hereditary or
environment induced
 Chromosomes
Thread like structures where DNA is
packed
 ANATOMY OF A p -arm
CHROMOSOME
• Centromere - point where
sister chromatids are
joined together centromere
• P arm=short arm; upward
• Q arm=long arm; q-arm
downward
• Telomere - tips of
chromosome
chromatids telomere
 Karyotype – number and appearance of
chromosomes (length, banding pattern,
centromere position)
Karyogram – photograph of chromosomes
 Autosomes – Chromosomes 1-22
Sex Chromosomes – chromosome 23 (XX –
female; XY- Male)
 types of
CHROMOSOMAL MUTATIONS
1. Deletion
• A portion of a
chromosome is omitted
and genes are lost
permanently
• E.g. Cri du chat (Chr # 5)
 types of
CHROMOSOMAL MUTATIONS
Cri du chat (Chr # 5)
 types of
CHROMOSOMAL MUTATIONS
2. Insertion
• A portion of a
chromosome is added
to another
chromosome
 types of
CHROMOSOMAL MUTATIONS

3. Inversion
• The order of genes in
the chromosome is
reversed
 types of
CHROMOSOMAL MUTATIONS
4. Duplication
• A portion of the
chromosome is
repeated and
doubled in the same
chromosome
 types of
CHROMOSOMAL MUTATIONS
6. Aneuploidy
• Monosomy (2n-1)
 Turner syndrome (XO)
• Trisomy (2n +1)
 Trisomy 21 (Down)
 Trisomy 18 (Edward’s)
 Trisomy 13 (Patau)  Klinefelter syndrome
 Jacob’s syndrome (XYY) (XXY or XXXY)
 Trisomy 47 (Triple X)
 types of
CHROMOSOMAL MUTATIONS
Turner syndrome (XO)
 types of
CHROMOSOMAL MUTATIONS
Trisomy 21 (Down)
 types of
CHROMOSOMAL MUTATIONS
Trisomy 18 (Edward’s)
 types of
CHROMOSOMAL MUTATIONS
Trisomy 13 (Patau)
 types of
CHROMOSOMAL MUTATIONS
Jacob’s syndrome (XYY)
 types of
CHROMOSOMAL MUTATIONS
Trisomy 47 (Triple X)
 types of
CHROMOSOMAL MUTATIONS
Klinefelter syndrome (XXY or XXXY)
 types of
CHROMOSOMAL MUTATIONS
Klinefelter syndrome (XXY or XXXY)
Errors and DNA
damage
occurs all the
time
Proofreading and repair mechanisms

apoptosis
Errors and DNA
damage
 PROOFREADING
• DNA polymerase – enzyme that builds
the DNA in DNA replication
• “check their work”
• 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
PROOFREADING
MISMATCH REPAIR
• A few
mispaired
bases slip
through
• Remove and
replace
mispaired
bases
 In Focus: Newborn Screening

Newborn screening program in the Philippines

currently includes screening of six disorders:
1. Congenital Hypothyroidism (CH)
2. Congenital Adrenal Hyperplasia (CAH),
3. Phenylketonuria (PKU),
4. Galactosemia (GAL),
5. Glucose-6-Phosphate Dehydrogenase (G6PD)
Deficiency,
6. Maple Syrup Urine Disease (MSUD).