MUTATION

What is Mutation?
- A mutation is a change in the DNA sequence of an organism.
Mutations can result from errors in DNA replication during cell
division, exposure to mutagens or a viral infection. Germline
mutations (that occur in eggs and sperm) can be passed on to
offspring, while somatic mutations (that occur in body cells) are not
passed on.

TWO TYPES OF MUTATION:

GENE MUTATION: Gene mutations are the alterations of the
nucleotide sequence of a gene. It may alter the function of proteins in the
body. Chromosomal mutations can be either an alteration of chromosome
structure or chromosome number. The influence of chromosomal mutations
is higher than gene mutations.
TYPES OF GENE MUTATION:
 SUBSTITUTION: In terms of genomics, substitution is a sort of
mutation where one nucleotide is changed for a different nucleotide.
The phrase can also be used to describe switching out one amino
acid for another in a protein.
  INSERTION: In terms of genomics, an insertion is a form of mutation
in which one or more nucleotides are inserted into a DNA sequence.
Any number of nucleotides can be added during an insertion, ranging
from one nucleotide to an entire chromosome.

CHROMOSOMAL MUTATION: An alteration of the nucleotide

sequence of a segment of chromosome, which includes many genes.
TYPES OF CHROMOSOMAL MUTATION:
 DELETION: a type of mutation that involves the loss of one or more
nucleotides from a segment of DNA. A deletion mutation can remove
a single nucleotide, or entire sequences of nucleotides.

 INVERSION: An inversion in a chromosome occurs when a segment

breaks off and reattaches within the same chromosome, but in
reverse orientation. DNA may or may not be lost in the process.
  TRANSLOCATION: Occurs when a piece of one chromosome
breaks off and attaches to another chromosome. This type of
rearrangement is described as balanced if no genetic material is
gained or lost in the cell. If there is a gain or loss of genetic material,
the translocation is described as unbalanced.

ADVANTAGES
CREATES DIVERSITY OF UNIQUENESS: Responsible for the inability of
producing brown eyes. For instance, occurrences like hair color, freckles,
beauty spots, and baldness are just a few consequences of mutation.

ESSENTIAL FOR SURVIVAL: The process of mutating has allowed

humans to adapt to different environments.
DISADVANTAGES
DISEASES: Many other diseases, such as cancer, diabetes and asthma,
are linked to genetic mutations.

GENETIC DISORDER: Genetic disorders are diseases that are caused by

the abnormality in the DNA of certain individuals.
EXAMPLE OF GENETIC DISORDERS:
- Down’s Syndrome
- Sickle Cell
- Cystic Fibrosis
- Brugada Syndrome

CAUSES OF MUTATION
Mutations can result from errors in DNA replication during cell division,
exposure to mutagens or a viral infection.
EFFECTS OF MUTATION
ADVANTAGES
CREATES DIVERSITY OF UNIQUENESS: Responsible for the inability of
producing brown eyes. For instance, occurrences like hair color, freckles,
beauty spots, and baldness are just a few consequences of mutation.

ESSENTIAL FOR SURVIVAL: The process of mutating has allowed

humans to adapt to different environments.

DISADVANTAGES
DISEASES: Many other diseases, such as cancer, diabetes and asthma,
are linked to genetic mutations.

GENETIC DISORDER: Genetic disorders are diseases that are caused by

the abnormality in the DNA of certain individuals.
EXAMPLE OF GENETIC DISORDERS:
- Down’s Syndrome
- Sickle Cell
- Cystic Fibrosis
- Brugada Syndrome

ABNORMALITIES/DISORDERS
DOWN SYNDROME - Down syndrome is a genetic condition where people
are born with an extra chromosome.
CYSTIC FIBROSIS - (CF) is a genetic (inherited) disease that causes
sticky, thick mucus to build up in organs, including your lungs and
pancreas.
BRUGADA SYNDROME - a rare genetic disorder that can cause a
dangerous irregular heartbeat, especially during sleep or at rest.
SICKLE CELL DISEASE - an inherited disorder that affects your red blood
cells, producing a negative impact on your health. These sickle cells can
block blood flow, and result in pain and organ damage.
SPINA BIFIDA (SPLIT SPINE) - It’s caused by the incomplete
development of the fetus' spine during the first month of pregnancy. A
combination of genetics and environmental factors is thought to be the
main cause.