“DNA MUTATION AND ITS EFFECT ON INDIVIDUAL”

What are DNA mutations?

• process by which changes occur in the genetic material of an organism.

• the genetic material of an organism is contained in the DNA molecules that are located in the
nucleus of the cell.

• mutations can occur due to various factors, including errors in DNA replication, exposure to
certain chemicals or radiation, and environmental factors.

• DNA mutations can have a wide range of effects, ranging from neutral to beneficial to harmful.

When do mutations happen?

Genetic mutations occur during cell division when your cells divide and replicate. There are two types of
cell division:

• Mitosis: The process of making new cells for your body. During mitosis, your genes instruct your
cells to split into two by making a copy of your chromosomes.

• Meiosis: The process of making egg and sperm cells for the next generation. During meiosis,
chromosomes copy themselves with half the amount of chromosomes as the original (from 46
to 23). That’s how you’re able to get your genetic material equally from each parent.

There are many different diseases and conditions caused by mutations. The signs and symptoms you
experience could include:

• Physical characteristics like facial abnormalities, a cleft palate, webbed fingers and toes, or short
stature.

• Problems with cognitive (intellectual) function and developmental delays.

• Vision or hearing loss.

 • Breathing problems.

• Increased risk of developing cancer.

Are genetic mutations bad?

• Not all genetic mutations lead to genetic disorders. Some genetic mutations don’t have any
effect on your health and well-being. This is because the change in the DNA sequence doesn’t
change how your cell functions.

• Your body also has enzymes, which are a substance that creates chemical reactions in our body.
These enzymes help your body protect itself from disease. Enzymes can repair a variety of
genetic mutations before they affect how a cell functions.

• Some genetic mutations even have a positive effect on humans. Changes in how cells work can
sometimes improve the proteins that your cells produce and allow them to adapt to changes in
your environment.

• An example of a positive genetic mutation is one that can protect a person from acquiring heart
disease or diabetes, even with a history of smoking or being overweight.

Types of DNA Mutations

1. point mutations

2. insertion mutations

3. deletion mutations

4. chromosomal mutations

1. Point mutations involve a change in a single nucleotide in the DNA sequence.

• the most common type of mutation and can occur in different ways..

• For example, if a cytosine nucleotide is replaced by a thymine nucleotide, it is known as a C to T

substitution. This type of mutation can have different effects depending on where it occurs in
the DNA sequence.

• Point Mutations – changes in one or a few nucleotides

• Substitution

• THE FAT CAT ATE THE RAT

• THE FAT HAT ATE THE RAT

• Insertion

• THE FAT CAT ATE THE RAT

• THE FAT CAT XLW ATE THE RAT

 • Deletion

• THE FAT CAT ATE THE RAT

• THE FAT ATE THE RAT

• 2. Insertion mutations involve the addition of one or more nucleotides to the DNA sequence,
while 3. Deletion mutations involve the removal of one or more nucleotides from the DNA
sequence.

• Insertion and deletion mutations can also have different effects on the organism. If the number
of nucleotides inserted or deleted is not a multiple of three, it can result in a frame shift
mutation. This type of mutation can alter the reading frame of the DNA sequence, changing the
amino acid sequence of the protein and potentially leading to a non-functional protein.

• Frameshift Mutations – shifts the reading frame of the genetic message so that the protein may
not be able to perform its function.

• Insertion

• THE FAT CAT ATE THE RAT

• THE FAT HCA TAT ETH ERA T

• Deletion

• THE FAT CAT ATE THE RAT

• TEF ATC ATA TET GER AT

• 4. Chromosomal mutations involve changes in the number or structure of chromosomes.

• Changes in number and structure of entire chromosomes

• Original Chromosome ABC * DEF

• Deletion AC * DEF

• Duplication ABBC * DEF

• Inversion AED * CBF

• Translocation ABC * JKL

GHI * DEF

• For example, aneuploidy occurs when there are an abnormal number of chromosomes, such as
in Down syndrome, which is caused by an extra copy of chromosome 21.

Mutations can occur spontaneously or be induced by external factors.

 Spontaneous mutations occur due to errors in DNA replication or other cellular processes.
  External factors that can induce mutations include exposure to certain chemicals, such as
carcinogens, and radiation, such as ultraviolet light and X-rays. These external factors can cause
DNA damage, leading to mutations in the DNA sequence.

There are several patterns that genetic mutations can pass from the parent to a child (hereditary),
like:

1. Autosomal dominant: Only one parent needs to pass the genetic mutation onto their child for
their child to inherit the mutation.

Marfan syndrome is an example of a condition inherited in this pattern.

2. Autosomal recessive: Both parents need to pass the same genetic mutation onto their child for their
child to inherit the mutation.

Sickle cell disease is an example of a condition inherited in this pattern.

3. X-linked dominant: Babies assigned male or female have an X chromosome. Only one mutation on
the X chromosome needs to pass from one parent to the child for the child to inherit the mutation.

Fragile X syndrome is an example of a disorder inherited in this pattern.

4. X-linked recessive: If only dad has the mutation, there’s 100% that female offspring will be carriers
and no male offspring will be affected. If only mom had the mutation, there’s a 50% chance that female
offspring will be carriers and a 50% chance male offspring will have the condition. If both parents have
the mutation, 50% of male offspring will have the condition and 100% of female offspring will have the
mutation.

Color blindness is an example of a condition inherited in this pattern.

5. X-linked: Babies assigned male or female have an X chromosome. Mutations on the X chromosome
can pass in a dominant or recessive pattern, but not every pattern is clear on how the child acquired the
mutation from their parents.

Thrombocytopenia is an example of a condition inherited in this pattern.

6. Y-linked: Only babies assigned male at birth have a Y chromosome and can inherit this type. Only one
mutation on the Y chromosome needs to pass to the child to inherit the mutation.

Webbed toes are an example of a condition inherited in this pattern.

7. Codominant: Each gene has two parts (one from the egg and one from the sperm). They usually work
together to create a single trait. But sometimes, they each work separately to produce variations of the
trait.

Alpha-1 antitrypsin deficiency is an example of a condition inherited in this pattern.

8. Mitochondrial: The mitochondria are the part of a cell that creates energy. Only mitochondria from
the egg survive fertilization, when the two cells come together. So, all maternal DNA in the embryo
come from the egg. This is why mitochondrial inheritance is also known as maternal inheritance.

Leber Hereditary Optic Neuropathy (sudden vision loss) is an example of a condition inherited in this
pattern.