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Laabri

Copy of 12. Mutations Independent Work (week of 13 April 2026) (5/28/2026)

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Last updated about 1 month ago
9 Nsɛmmisa
Hyɛ no nsow a efi ɔkyerɛwfo no hɔ:
Part 1 - Reading
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Part 2 - Video

Read This

The questions will not tell you while you are working if you are correct or not while you are working.

  • Your score will be revealed once you submit the formative.

  • You can reattempt this a second time

  • Your correct answers for attempt 1 will be transferred to attempt 2

  • You will only need to correct the questions that are blank in attempt 2.

Use the provided resources, an only the provided resources, to help you answer the questions.

Warning: The drive for perfection is a tantalizing temptation that pushes some people to cross lines into cheating. Just use the resources I've given you - I have constructed all questions based upon them.

  • I'm looking for evidence that you used resources other than those provided. If evidence exists, you will not receive any credit.

This is due at the end of the week (17 April) and will be locked three weeks after the due date (08 May).

Read This

The questions will not tell you while you are working if you are correct or not while you are working.

  • Your score will be revealed once you submit the formative.

  • You can reattempt this a second time

  • Your correct answers for attempt 1 will be transferred to attempt 2

  • You will only need to correct the questions that are blank in attempt 2.

Use the provided resources, an only the provided resources, to help you answer the questions.

Warning: The drive for perfection is a tantalizing temptation that pushes some people to cross lines into cheating. Just use the resources I've given you - I have constructed all questions based upon them.

  • I'm looking for evidence that you used resources other than those provided. If evidence exists, you will not receive any credit.

This is due at the end of the week (17 April) and will be locked three weeks after the due date (08 May).

Types of Mutations

Mutations, a change in the DNA or RNA sequence, may have no effect or may be harmful. There are numerous ways that the genetic information can be changed. Some of these changes can be inherited. In multicellular organisms, mutations can be subdivided into germline mutations, which can be passed on to descendants, and somatic mutations, which cannot be transmitted to the next generation.

Germline mutations change the DNA sequence within a sperm or ovum (egg cell), and therefore can be inherited. This inherited mutation may result in a class of diseases known as a genetic disease. The mutation may lead to a nonfunctional protein, and the embryo may not develop properly or survive.

Somatic mutations may affect the proper functioning of the cell with the mutation. During DNA replication, the mutation will be copied. The two daughter cells formed after cell division will both carry the mutation. This may lead to the development of many cells that do not function optimally, resulting a less than optimal phenotype. Various types of mutations can all have severe effects on the individual. These include point mutations, framehift mutations and chromosomal alterations.

5
Asemmisa {{asɛmmisaAhyɛnsode}}
1.

a.) A mutation is a change in the sequence of or molecules.

b.) Some mutations have no impact at all, while others can be .

c.) Changes in genetic information may sometimes be passed to offspring when they occur in cells.

d.) Mutations found in sperm or egg cells are called mutations.

e.) Germline mutations can lead to inherited disorders known as .

f.) Somatic mutations happen in body cells and therefore be inherited by future generations.

g.) When a somatic mutation occurs, it is copied during , so both daughter cells carry the altered gene.

h.) Mutations inside body cells can result in a less-than-optimal for that organism.

i.) Three main categories of mutations include mutations, point mutations, and alterations.

Chromosomal Alterations

Chromosomal alterations are large changes in the chromosome structure. They occur when genetic material is added or removed from a chromosome. This alteration of a chromosome may occur when a section of a chromosome breaks and rejoins a chromosome incorrectly, or does not rejoin at all. Sometimes the segment may join backwards or reattach to another chromosome altogether. These mutations are very serious and usually lethal to the zygote or embryo. If the embryo does survive, the resulting organism is usually sterile and thus, unable to pass along the mutation.

The five types of chromosomal alterations are deletions, duplications, insertions, inversions, and translocations (see Figure below).

  1. Deletions are the removal of a large chromosomal region, leading to loss of the genes within that region.

  2. Duplications lead to multiple copies of a chromosomal region, increasing the number of the genes located within that region. Some genes may be duplicated in their entirety.

  3. Insertions are the addition of material from one chromosome to a nonhomologous chromosome.

  4. Inversions are reversing the orientation of a chromosomal segment.

  5. Translocations are the interchange of genetic material between nonhomologous chromosomes.

lesson content

[Figure 2] Chromosomal alterations. Deletion: the blue segment has been removed; Duplication: the blue segment has been duplicated; Inversions: the blue segment has been reversed; Insertion: the yellow segment has been removed from chromosome 4 and placed into chromosome 20; Translocation: a green segment from chromosome 4 has been exchanged with a red segment from chromosome 20.

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Asemmisa {{asɛmmisaAhyɛnsode}}
2.

a.) Chromosomal alterations involve large structural changes in a .

b.) These mutations occur when genetic material is or from a chromosome.

c.) Such severe alterations are often to a developing embryo.

d.) The five major types of chromosomal alterations are:

  • The orientation of sections of a chromosome -

  • Formation of many copies of sections of a chromosome -

  • Loss of one or more sections of a chromosome -

  • Sections of one chromosome are swapped with sections of another chromosome -

  • Adding new sections to a chromosome -

Point Mutations

As the name implies, point mutations occur at a single site within the DNA. The example from Protein Synthesis: The Genetic Code (Advanced) concept demonstrates this mutation:

THE BIG FAT CAT ATE THE RED RAT.

A change at any one position could result in a sequence that does not make sense. Such as the C to A change shown here

THE BIG FAT AAT ATE THE RED RAT.

As shown above, point mutations exchange one nucleotide for another and are known as base substitution mutations. These mutations are often caused either by chemicals or by a mistake during DNA replication. A transition exchanges a purine for a purine (A left_right_arrow emoji G) or a pyrimidine for a pyrimidine, (C left_right_arrow emoji T), and is the most common point mutation. Less common is a transversion, which exchanges a purine for a pyrimidine or a pyrimidine for a purine (C/T left_right_arrow emoji A/G). Point mutations that occur within the protein coding region of a gene are classified by the effect on the resulting protein:

Type

Description

Example

Effect

Silent

mutated codon codes for the same amino acid

CAA (glutamine) → CAG (glutamine)

none

Missense

mutated codon codes for a different amino acid

CAA (glutamine) → CCA (proline)

variable

Nonsense

mutated codon is a premature stop codon

CAA (glutamine) → UAA (stop)

usually serious

These mutations may result in a protein with the same function, with altered function, or with no function. Silent mutations, as they code for the same amino acid, will have no altered effect on the protein. Missense mutations may have a minor effect or a dramatic effect on the protein. Nonsense mutations usually have the most dramatic effet. Depending on the position of the premature stop codon, nonsense mutations may result in an unstable mRNA that cannot be translated, or in a truncated mRNA and a much "smaller" protein without any significant activity.

Deletions and Insertions

Similar to chromosomal alteration mutations, deletion or insertion mutations add or remove genetic information. Small deletions or insertions in the DNA will alter the reading frame. Deletions remove one or more nucleotides from the DNA, whereas insertions add one or more nucleotides into the DNA. These mutations in the coding region of a gene may also alter the splicing of the mRNA, known as a splice site mutation. Mutations which alter the reading frame are known as frameshift mutations. Splice site mutations and frameshift mutations both can dramatically change the mRNA, altering the final protein product.

Consider the following sequence of bases in RNA: AUG-AAU-ACG-GCU which is translated into start-asparagine-threonine-alanine.

Now, assume an insertion occurs in this sequence. Let’s say an A nucleotide is inserted after the start codon AUG

AUG-AAA-UAC-GGC-U is now translated into start-lysine-tyrosine-glycine.

Even though the rest of the sequence is unchanged, this insertion changes the reading frame and thus all of the codons that follow it. As this example shows, a frameshift mutation can dramatically change how the codons in mRNA are read. This can have a drastic effect on the protein product.

5
Asemmisa {{asɛmmisaAhyɛnsode}}
3.

a.) A changes a single nucleotide within the DNA sequence.


b.) When one nucleotide is replaced by another, this type of point mutation is called a .


c.) A mutation that substitutes one amino acid for another in the protein sequence is known as a .


d.) When an insertion or deletion shifts how codons are grouped, it produces a .


e.) A mutation that introduces a premature stop codon, resulting in a shortened protein, is called a .

Asemmisa {{asɛmmisaAhyɛnsode}}
4.

Match each term with description that best matches it.

Draggable itemarrow_right_altCorresponding Item

Chromosome Mutation

arrow_right_alt

sequence of DNA that codes for a particular protein

Frameshift Mutation

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any change in the sequence of DNA that may or may not affect the protein made by that sequence

Mutagen

arrow_right_alt

Mutation affecting a single gene or base pair within a gene

Point Mutation

arrow_right_alt

mutations that cause major changes to proteins because they "shift" the reading frame of the genetic code

mutation

arrow_right_alt

Mutations that affect entire regions of chromosomes, or multiple chromosomes

gene

arrow_right_alt

Any environmental factor that may cause a mutation

Asemmisa {{asɛmmisaAhyɛnsode}}
5.

ALL mutations effect the resulting protein

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6.

Which of the following explains why mutations may have no affect on a protein?

Select all that apply.

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7.

Which type of mutation listed below is most likely going to cause a frameshift mutation?

Select all that apply.

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8.

Which of the following mutations is most likely going to have large affects on any proteins made from the gene(s) involved?

Select all that apply.

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9.

Answer the following questions using the video. The video will not pause (it's 7 minutes long, you can tough this out).

Recommendations:

  • Watch the video the first time without attempting to answer any questions.

  • Then rewind the video and read the first question.

  • Restart the video and listen for the question and the answer to be discussed.

  • Pause it, as needed, and answer the questions as the answers are revealed.

If the video does not play in formative, due to GG restrictions, we can watch it in class on Tuesday or Friday.

Questions:

a.) A mutation is a change in the material, specifically within a nucleic acid like or .

b.) Mutations can occur in animals, plants, fungi, protists, bacteria, archaea, and even .

c.) A changes a single base but still codes for the same amino acid.

d.) Mutations are events (unpredictable is really a better term, but well-meaning people perpetuate the bad habits of their teachers) and organisms cannot choose to acquire a specific one.

e.) Insertions and deletions can cause a by shifting how bases are read in groups of three.

f.) Chromosomal mutations include , where extra gene copies are made.

g.) When chromosomes fail to separate properly during meiosis, this is called .

h.) Fruit fly mutations are often studied because they help us understand inheritance in .

i.) In sickle cell anemia, a in the hemoglobin gene changes red blood cell shape.

j.) Carriers of the sickle cell mutation have one copy of the mutated gene and resistance to .