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BASIC

PRINCIPLES OF
GENETICS
Cruz, Cuadro, Dingal, Dion, Estrella,
Fernandez, Gomez, Gumop-as
1.
GENETIC IS
SCIENCE OF GENES
● Genetics is a science of the
structure, function and
movement of genes.

● Gregor Mendel is known as


the “father of modern
genetics.” 3

● Some of the fields of


genetics include
biochemistry, cell biology,
bioinformatics, medical
genetics, etc.
2.
GENES ARE MOSTLY
LOCATED ON CHROMOSOMES
ADRIAN
▹ GENES are segments of deoxyribonucleic acid
(DNA) that contain the code for a specific
protein that functions in one or more types of 5
cells in the body

▹ CHROMOSOMES the microscopic threadlike part


of the cell that carries hereditary information in
the form of genes.
3.
GENES ARE MADE
UP OF DNA OR RNA
MITZI
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4.
GENES CAN REPLICATE
THEMSELVES
MARIELLA
Replication
● A process wherein a
double-stranded DNA
molecule is copied to
produce two identical DNA 9

molecules.
● Replication is vital for cell
growth, repair, and
reproduction in
organisms.
5.
LANGUAGE OF GENE IS
SIMPLE AND INFORMATIVE
JERENE
FONT HERE IS MIRIAM
LIBRE

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6.
ALTERED GENES ARE
MUTATIONS
FRANCIS
ALTERATION, MUTATION
All of us are subjected to
mutagenic events 1
throughout or lifetime. 3

Our cells have numerous mechanisms to repair


and/or prevent the propagation of these
mutations
TYPES OF MUTATIONS
Normal
THE BIG RED RED DOG RAN OUT

Missense
THE BIG RAD DOG RAN OUT 1
4
Nonsense
THE BIG RED.

Frameshift - deletion
THE BRE DDO GRA.

Frameshift - insertion
THE BIG RED ZDO GRA.
Base Pair Substitution Replacement of one DNA base by
another in a DNA sequence

Missense Mutation An amino acid residue in the original protein


may be replaced by a different one in the mutated protein

Nonsense Mutation The codon for an amno acid residue within


the original protein is changed to a stop codon, leading to
premature termination and a nonfunction protein
1
5
Silent Mutation The codon for an amino acid is changed, but the
same amino acid is still coded for

Frameshift Mutation A deletion or insertion of any number of


bases other than a multiple of three bases has a more profound
effect

Deletions, Insertions, and Duplications Large insertion and


deletion in coding regions prevents production of useful proteins
Inversions This type of mutation occurs
when a chromosomal section is separated
from the chromosome and changes its
conformation oppositely in orientation

Translocations This type of chromosomal


aberration results when one portion of a 1
6
chromosome is transferred to another
chromosome

LacZ Mutations An example of particular


mutations found in LacZ gene of E.coli,
which encodes the lactose hydrolyzing
enzyme b-galactosidase
Suppresor Mutations are a powerful mode of
genetic analysis is to investigate the types of
mutations that can reverse the phenotypic effects of a
starting mutation. The possibilities are:

Back Mutation true wild type

Intragenic suppressor compensating


1
mutation in same gene 7

Extragenic suppresor compensating


mutation in different gene

Nonsense Suppressor is an important class of


extragenic suppressor mutations can suppress
nonsense mutations by changing the ability of the cells
to read a nonsense codon as codon for an amino acid
Gene mutation related to drug response in human
individual called as pharmacogenetic, this new
field that constitute integration of pharmacology
and genetic factor into study drug metabolism and
its effect in human body. Whereas understanding
pharmacogenomic can be interchangeable with
pharmacogenetic, because in a pharmacogenomic 1
study about adverse drug reaction deal with 8
genome, while pharmacogenetic deal with
individual gene in a genome.
GENE MUTATIONS, GENETIC DISEASE AND PHARMACOGENETIC GENES
DISORDER (PDF Download Available). Available from:
https://www.researchgate.net/publication/49592879_GENE_MUTATIONS_GENETI
C_DISEASE_AND_PHARMACOGENETIC_GENES_DISORDER [accessed Jan
25 2018].
ALTERED GENES:
MUTATIONS
Causes of mutations by substances that disrupts
the chemical structure of DNA or the sequence of
its bases. Radiation, various chemicals, and
chromosome rearrangements are some of the 1
many sources of mutation 9

Alteration of DNA structures caused


by environmental factors such as
chemical mutagen or cosmic
radiation in gene mutation in the
human genome is difficult to predict
ALTERED GENES:
MUTATIONS
Several methods have been
developed to detect gene
mutation in human, animal
2
and plants, most of these 0
methods were PCR-based
method
Looking through the future, therapy of
genetic disease as well as abnormal
of drug metabolism can be directed
into gene therapy techniques with
using stem cell engineering
7.
THE WAY FROM GENES
TO TRAITS
DANA
-Replication is the process by which DNA copies itself in order to
be passed on to a new cell during cell division.
-Transcription is the process by which the DNA sequence of a
gene is used to form an identical strand of mRNA which will be
used to guide protein synthesis.
-Translation is the process by which the mRNA sequence is used
to guide construction of a protein from its constituent amino
acids. 2
• Problems during any of these processes can lead to a 2
disruption of normal gene function, which can manifest itself as
clinical disease.

• The genes in our DNA encode for the proteins that


compose our body through the processes of transcription and
translation, with messenger RNA being the intermediary.
Transcription occurs in the cell nucleus.
Mutations in the proteins that are involved in replication. can
lead to improper expression and function of a gene. A mutation
in a promoter sequence that makes it non-functional would lead
to decreased expression of the gene and, therefore, decreased
amounts of a protein.
Translation is the process that turns a gene sequence, via a
transcribed RNA molecule, into a protein.
2
•mRNA provides the sequence that is translated
3
•rRNA helps to direct the orderly translation of this sequence,
and tRNA is the direct link between the sequence of bases and
the amino acids that they code for.
•tRNA is the direct link between the sequence of bases and the
amino acids that they code for.
-Enzymes, such as those in the digestive system.
-Structural components, such as the collagen in
ligaments and tendons.
-Protection, including antibodies and components of the
blood clotting cascade.
-Regulatory hormones, including insulin and growth
hormone. 2
-Movement, due to the actin and myosin in our muscles. 4
-Transport, carried out by hemoglobin and albumin in
our blood.
All proteins are linear polymers and are made up of basic
building blocks called amino acids. Translation, or protein
construction, takes place in the cytoplasm.

Proteins are responsible for transport, storage and the


structural framework of cells. They make up antibodies, the
enzymatic machinery that catalyzes biochemical reactions
responsible for metabolic activities. Finally, proteins are an
important component in many hormones, and contractile 2
proteins are responsible for muscle contraction and cell 5
motility.
NAME OF JOURNAL
RICO
REFERENCES
Ishak. (2010). GENE MUTATIONS, GENETIC DISEASE AND PHARMACOGENETIC
GENES DISORDER. International Journal of Research in Ayurveda and
Pharmacy. 1. .

Basic principles of Genetics. Retrieved from the internet. 2


https://voer.edu.vn/m/basic-principles-of-genetics/16798649. 7
24 January 2018.
THANKS!
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