Julie Pressley

Professor Maughan
Anthropology 1020
December 5, 2015
Evolutionary Theory Project Paper
DNA Mutations for children
In my project I am going to be teaching children the importance of our DNA and what
our DNA does for our bodies. I think that it would be fun for the kids to see whats in their body
with the DNA replicas that we create and have a little knowledge about it. In this paper you will
read about DNA and Mutations found in DNA and its importance in our bodies.
Deoxyribonucleic acid, also known as DNA, is a molecule that contains the
instructions an organism needs to develop, live and reproduce. These molecules are made up
of what is called nucleotides. Each Nucleotide contains a phosphate group, a sugar group and a
nitrogen base. There are four types of nitrogen bases are Adenine (A), Thymine (T), Guanine (G)
and Cytosine (C). The order that these bases are in will determine what the genetic code will
read, and the nitrogen bases in a DNA sequence forms genes. The entire human genome contains
about 3 billion bases and about 20,000 genes.
However, there can be changes in the DNA that will lead to gene mutations. A gene
mutation, also just known as a mutation are permanent alterations in the DNA sequence that
makes up a gene. Mutations range in size and they can affect anywhere from a single DNA base
to a large segment of chromosomes that include multiple genes. Mutations have varying effects
on health, depending on where they occur and depending on if they alter the function of essential
proteins. The types of mutations include: missense mutations, nonsense mutations, insertions,
deletions and frameshift mutations.
Missense mutations are when there is a change in one DNA base pair that results in the
substitution of one amino acid for another in the protein made by a gene. This is a point mutation
that cause a codon to code for a different amino acid in other words. The most notorious
missense mutation is the one that causes sickle cell anemia. In this disease, one of the codons in
an important hemoglobin gene has changed from CTC to CAC, resulting in the amino acid valine
instead of glutamic acid.

Nonsense mutations are when there is a change in one DNA base pair. Instead of
substituting one amino acid for another, it introduces a premature stop codon into the part of the
gene that encodes a protein. An example would be when TTC is being transcribed into the
sequence AAG in the messenger RNA. AAG normally codes for the amino acid lysine at the
protein level. This point mutation occurs when TTC changes to ATC and then is transcribed to
UAG in the messenger RNA. That sends out a stop codon, which tells the ribosome to stop
translating and let the protein go.
Insertions changes the number of DNA bases in gene by adding a piece of DNA. This is
when extra nucleotides are put into a DNA sequence, making it longer than it should be. As a
result, the protein made by the gene could be detrimental and result in the production of a
nonfunctional protein. A very common example of an insertion mutation would be Huntingtons
disease, where a trinucleotide repeats are inserted into the DNA sequence leading to this disease.
A deletion changes the number or DNA bases by removing pieces of DNA. Small
deletions may remove one or a few base pairs within a gene, while larger deletions can remove
an entire gene or several neighboring genes. The number of base pairs deleted can range from
one to thousands. 22q11.2 deletion syndrome is cause by the deletion of some bases of
chromosome 22. This disease is characterized by cleft palate, heart defects, autoimmune
disorders etc.
Frameshift mutations occurs when the addition or loss of DNA bases changes a genes
reading frame. A reading frame consists of groups of 3 bases that each code for one amino acid.
A frameshift mutation shifts the grouping of these bases and changes the code for amino acids
and these codons can completely change a gene so its message cannot be decoded correctly The
resulting protein is usually nonfunctional. Many types of cancers, Crohns disease and cystic
fibrosis are all associated with Frameshift mutation.
Human cells normally contain 23 pairs of chromosomes, for a total of 46 chromosomes in
each cell. A change in the number of chromosomes can cause problems with growth,
development, and function of the bodys systems. These changes can occur during the formation
of reproductive cells (eggs and sperm), in early fetal development, or in any cell after birth. A
gain or loss of chromosomes from the normal 46 is called aneuploidy.
A common form of aneuploidy is trisomy, or the presence of an extra chromosome in
cells. Tri- is Greek for three; people with trisomy have three copies of a particular

chromosome in cells instead of the normal two copies. Down syndrome is an example of a
condition caused by trisomy People with Down syndrome typically have three copies of
chromosome 21 in each cell, for a total of 47 chromosomes per cell.
How we will go about the project: Please refer to the pictures below.
Materials:

Twizzlers
Colored Marshmallows
Toothpicks

Works Cited
http://www.brighthub.com/science/genetics/articles/39543.aspx
http://study.com/academy/lesson/nonsense-mutation-definition-example-quiz.html
http://www.livescience.com/37247-dna.html
http://ghr.nlm.nih.gov/handbook/mutationsanddisorders?show=all
https://youtu.be/eDbK0cxKKsk
http://www.biotechnologyforums.com/thread-38.html
https://d3jc3ahdjad7x7.cloudfront.net/D71s7tNV2fzEkZ2tqHi7RgfGsKrb5SY6OT0cfvdfxYEX
XEpM.pdf