✾Genetic Mutations✾

Emily Carroll
6th Hour
 Background Information
❖ DNA- Deoxyribonucleic acid
➢ Present in nearly all living organisms
❖ DNA is made up of chromosomes- threadlike structures of nucleic acids
and proteins
➢ The typical human body is made up of 23 pairs of chromosomes (a
total of 46)
❖ One set of chromosomes is inherited from your mother, and the other
from your father.

An example of a pair of chromosomes

 Background Information Continued
❖ Genes are located on the chromosomes
➢ They control how quickly our cells grow,
how often they divide, and how long our
cells live.
❖ The formation of DNA is between four bases
➢ Adenine
➢ Thymine
➢ Guanine
➢ Cytosine
❖ Adenine base pairs with Thymine, while Guanine
base pairs with Cytosine
 What is a Genetic Mutation?
Definition: an abnormal change in the DNA
sequence… These are what cause diversity
amongst organisms.

❖ Genetic mutations produce abnormal proteins

➢ They are then unable to function properly
❖ May range in size: mutation may be in a single
strand of DNA or present in a large segment of
the DNA strand
 Types of Genetic Mutations
1. Substitution- A mutation that exchanges one base for another
a. Can cause an incomplete protein- may be serious effects since
the protein can not function correctly
b. Can cause a small change in the protein produced
c. Can make for a silent mutation- changing a codon to one which
encodes the same amino acid (no change in the protein)
2. Insertion- A mutation where an extra base pair is added into a new
place in the DNA sequence
3. Deletion- A mutation where a section of the DNA is removed
4. Frame shift- A mutation from insertions and deletions which alter a
gene so that the message can no longer be read
 Hereditary vs. Acquired Mutations
Hereditary Acquired

● Inherited from a parent ● Occur sometime throughout

○ Mutations are present in
parent and sperm cell
○ Fertilized egg receives the
DNA from parents
● Present throughout one’s life
in every cell in the body
one’s life
○ Caused by environmental
vs. factors (Ex. The Sun)
○ Can be caused by errors
in DNA replication
● Not present in every cell
 Genetic Disorders
Definition: conditions caused by mutations in one of more genes

1. Single- the mutation affects only one gene

a. Ex. Sickle Cell Anemia= a disease in which there are not enough red
blood cells to carry oxygen throughout your body
2. Chromosomal- the mutation is caused because a chromosome is missing
or altered
a. Ex. Down Syndrome= a disease caused from a whole or partial extra
chromosome 21
3. Complex- the mutation occurs in two or more genes (environment and
lifestyle may contribute to)
a. Ex. Colon Cancer= a disease caused by abnormal growth in the colon
 Disorder- Autism
❖ Researches are not certain of the cause of autism- the only thought is
genes and the environment
❖ Many of the cases are idiopathic
➢ The condition spontaneously arises where the cause is unknown
❖ Some cases are secondary
➢ There is a chromosome abnormality, single-gene disorder or an
environmental agent is easily identifiable
❖ There are a number of genes associated with autism
❖ Can be caused from irregular regions of the brain
➢ Due to large levels of serotonin or neurotransmitters in the brain
■ Serotonin- chemical in our brain and the body
 Disorder- Down Syndrome
A condition relating to chromosome 21- 1 in 800 people
are diagnosed with Down Syndrome

1. Three copies of chromosomes 21 rather than just

two copies
a. This would disrupt and slow natural
development

OR…

2. Part of chromosome 21 is attached to another

chromosome Picture showing
the three
Most cases are not inherited; the cases are usually chromosomes
developed during cell reproduction
 Disorder- Tourette Syndrome
A condition relating to repetitive actions or sounds that are
uncontrollable by the person experiencing

❖ Tourettes develops around sometime between age 2 to 15

❖ Men are more likely to be diagnosed than women are
➢ Three times as likely in fact
1. Simple tics- movements relating to limited groups of muscles in the
body Ex. Eye Blinking
2. Complex tics- movement relating to multiple groups of muscles
throughout the body Ex. Hopping
 Cancer
Cancer= a group of diseases caused by abnormal cell growth that have
the potential to spread to other parts of the body over time

*Cancer is caused by more than one mutation in the DNA, not just one*

❖ Cancer is more common amongst older people since they have had
more time for the mutations to build up

Genes linked to cancer are…

❖ Tumor Suppressor Genes- protective genes that limit cell growth

by monitoring how quickly the cells divide
 References
Genetic Disorders. (2018, April 17). Retrieved from
https://medlineplus.gov/geneticdisorders.html

How can gene mutations affect health and development? - Genetics Home Reference - NIH.
(n.d.). Retrieved from
https://ghr.nlm.nih.gov/primer/mutationsanddisorders/mutationscausedisease

Learning, L. (n.d.). Biology for Majors I. Retrieved from

https://courses.lumenlearning.com/wmopen-biology1/chapter/dna-mutations/

Specific Genetic Disorders. (n.d.). Retrieved from

https://www.genome.gov/10001204/specific-genetic-disorders/

The Genetics of Cancer. (2018, September 28). Retrieved from

https://www.cancer.net/navigating-cancer-care/cancer-basics/genetics/genetics-cancer
 References Continued
What is a gene mutation and how do mutations occur? - Genetics Home Reference - NIH. (n.d.).
Retrieved from https://ghr.nlm.nih.gov/primer/mutationsanddisorders/genemutation

(n.d.). Retrieved from https://evolution.berkeley.edu/evolibrary/home.php