Explore: Genetic Disorders and
Mutations
1. In your own words, describe what a mutation is?
Mutation is when the genetic sequence is altered.
1.
Genes can be “mutated” in several different ways, use the website below to describe the
different ways.
Mutation Type
Description
Inversion
This is when a chromosome breaks and the piece of it turns around and reattaches
itself.
Insertion
An insertion changes the number of DNA bases in a gene by adding a piece of DNA.
Deletion
A deletion changes the number of DNA bases by removing a piece of DNA.
Duplication
A duplication consists of a piece of DNA that is abnormally copied one or more
times.
Translocation
A genetic change in which a piece of one chromosome breaks off and attaches to
another chromosome.
3. Complete the graphic organizer by determining if the following are caused by gene mutations
or chromosomal abnormality, then describe it.
Mutation or Chromosomal
Abnormality?
Description
Huntington
Disease
Mutation
when an individual has one altered copy of the
relevant gene? and one healthy copy.
Cystic Fibrosis
Mutation
when an individual has two altered versions of
the relevant gene.
chromosome abnormality
Fragile X syndrome is a genetic disorder
characterized by mild-to-moderate intellectual
disability.
Mutation
Sickle cell disease involves the hemoglobin in
the red blood cells, and their ability to carry
Fragile X
Sickle Cell
Disease
oxygen.They can easily move through the
vessels in our bodies. Sickle cells are stiff and
sticky. When they lose their oxygen, they form
into the shape of a sickle, or the letter "C."
These sickle cells tend to cluster together and
can't easily move through the blood vessels.
Tay-Sachs
Mutation
Tay-Sachs disease is a fatal disorder in
children that causes a progressive
degeneration of the central nervous system.
Color Blindness Mutation
Color blindness occurs when you are unable to
see colors in a normal way.
Achondroplasia Mutation
Achondroplasia is a genetic disorder that
results in dwarfism
Turner
Syndrome
chromosome abnormality
Turner syndrome can cause a variety of
medical and developmental problems,
including short height, failure of the ovaries to
develop and heart defects.
Down
Syndrome
Chromosomal Abnormality
results from an extra chromosome 21
Mutation
Albinism is a rare group of genetic disorders
that cause the skin, hair, or eyes to have little
or no color.
Albinism
4. Are all mutations harmful? If not, find examples of non-harmful mutations in humans.
Not all mutations are harmful because one example of a non-harmful mutation is color blindness.
5. Find 3 examples of genetic mutations that are caused by external factors.
Genetic Mutation
How is it caused?
Cystic Fibrosis
A defect in the CFTR gene causes cystic
fibrosis
Tay-Sachs
A defective gene on chromosome 15 (HEX-A)
causes Tay-Sachs disease.
Sickle Cell Disease
Sickle cell anemia is caused by a mutation in
the gene that tells your body to make the
iron-rich compound that makes blood red and
enables red blood cells to carry oxygen from
your lungs throughout your body