Download Mutation Test Study Guide Key

Mutation Study Guide:
1. Define the following words:
Word
Definition
the changing of the structure of a gene, resulting in a variant form that may be transmitted
to subsequent generations, caused by the alteration of single base units in DNA, or the
deletion, insertion, or rearrangement of larger sections of genes or chromosomes.
Mutation
1. Hereditary mutations are inherited from a parent and are present throughout a
How DNA can become person’s life in virtually every cell in the body.
2. Acquired (or somatic) mutations occur at some time during a person’s life and are
mutated…
present only in certain cells, not in every cell in the body. These changes can be
caused by environmental factors such as ultraviolet radiation from the sun, or can
occur if a mistake is made as DNA copies itself during cell division.
The set of observable characteristics of an individual resulting from the interaction
of its genotype with the environment.
Phenotype
Genotype
The genetic constitution of an individual organism.
Karyotype
the chromosomes of a cell, usually displayed as a systematized arrangement of
chromosome pairs in descending order of size.
a threadlike structure of nucleic acids and protein found in the nucleus of most
living cells, carrying genetic information in the form of genes.
a type of cell division that results in four daughter cells each with half the number of
chromosomes of the parent cell
the failure of one or more pairs of homologous chromosomes or sister chromatids
to separate normally during nuclear division, usually resulting in an abnormal
distribution of chromosomes in the daughter nuclei.
Chromosomes
Meiosis
Non-disjunction
Sex Chromosomes
The two chromosomes that determine a person’s sex in humans 23.
Autosomes
Any chromosome that is not a sex chromosome, in humans 1-22.
Male sex chromosomes
XY (This is the normal arrangement.)
Female sex chromosomes
XX (This is the normal arrangement.)
2. How many bases can a mutation effect? As few as one base or one gene, or multiple genes up to an entire
chromosome.
3. When it effects one base it is called Point Mutation
4. Define what is happening in each of these mutations:
Mutation
Explanation
One base is removed from the chromosome. Here
it is base “B”
One base is inserted twice from the chromosome.
Here it is base “B”
2 sections are switching places and orders on the
chromosome. Here it is “BC” switching with “DE”.
The transfer of part of a chromosome to a
different position on a non-homologous,
genetically dissimilar, chromosome. 2
chromosomes are needed for this to occur.
Use the following DNA strand to complete:
Original DNA 
TTA ACT TCG GTT ACA AGC GTG
Complimentary DNA
AAT TGA AGC CAA TGT TCG CAC
mRNA
UUA ACU UCG GUU ACA AGC GUG
Amino Acid sequence  Leucine, Threonine, Serine, Valine, Threonine, Serine, Valine
Write the original DNA strand again, but now make the 5th base a G instead of a C.
New DNA
TTA AGT TCG GTT ACA AGC GTG
Complimentary DNA
AAT TCA AGC CAA TGT TCG CAC
mRNA
UUA AGU UCG GUU ACA AGC GUG
Amino Acid chain
Leucine, Serine, Serine, Valine, Threonine, Serine, Valine
Rewrite the original DNA strand, but this time add a G after the third base.
New DNA
TTA GAG TTC GGT TAC AAG CGT G
Complimentary DNA AAT CTC AAG ATG TTC GCA C
mRNA
UUA GAG UUC GGU UAC AAG CGU G
Amino Acid chain Leucine, Glutamic Acid, Phenylalanine, Glycine, Tyrosine, Lysine, Arginine
Analysis Questions
Which change in the DNA, # 5 or #6, was a point mutation? #5
Which one was a frameshift mutation? #6
In what way did the point mutation affect the protein? One Amino acid changed.
How did the frameshift mutation affect the protein? All amino Acids after the mutation were different.
This was 6 amino acids.
Which one would more likely create a serious mutation in the protein? How do you know? Frameshift #6
because of the dramatic change the amino acid chain.
10. Fill in the following chart about diseases related to mutations.
Disease / Disorder
Phenotype examples
Genotype or Karyotype mutation
Sickle-Cell Anemia
Lack of pigmentation in the skin, red eyes…
Mutation on several chromosomes
including 11.
intellectual disability and dysmorphic facial
features
Extra 21st chromosome
Only female, neck webbing, short stature…
Lack of second X chromosome
making the sex chromosomes
X _O__
Have a second X chromosome
making the sex chromosomes
XX Y
Albinism
Downs Syndrome
Turners Syndrome
Klinefelters Syndrome
Only male and they have light female
characteristics such as breast tissue and wider
hips…
11. Label the chromosome. Use the words Centromere, Chromatid, Chromosome.