Biology Notebook: 03.06 Mutations: Key Questions and Terms Notes Mutations

Biology Notebook: 03.
06 Mutations
Objectives:
∙ Distinguish between different types of mutation
∙ Explain why mutations may or may not affect phenotype
∙ Identify internal and external factors that regulate cell division
∙ Explain cancer in terms of the cell cycle
Key Questions and Terms Notes

Mutations
How can DNA change or be damaged? other times environmental factors may damage
or change the DNA.
What is a mutation? A change in a cell’s genetic material
Are all mutations detrimental to the organism? others can be detrimental, and some do not cause any
noticeable change in traits.
Mutations can be separated into what two basic Mutation that affect the entire
1.
categories? chrosomes
2. Thoses that affect a single gene
Chromosomal Mutations
What are chromosomal mutations? Chromosomal mutations are changes in the
number or structure of chromosomes. These
mutations may add or remove entire
chromosomes or may change the location of
genes on a chromosome.
Describe the four main types of chromosomal 1. Deletion
mutations. 2. Duplication
3. Inversion
4. Translocation
Gene Mutations
What is a gene mutation or point mutation? they are chemical changes in one or a few
nucleotides that occur at a single point within a
gene.
When do gene mutations usually occur? before a cell divides.
Are gene mutations passed on? These mutations can be passed on from the
original cell to the new one that develops.
What happens when point mutations occur in a If this type of mutation occurs in a gamete, like
gamete (sperm or egg cell)? a sperm or egg cell, the mutation can be passed
on to the offspring.
What is a base-pair substitution? A base-pair substitution occurs when one base
pair (a nucleotide on one strand of the DNA
molecule and its partner from the
complementary strand) are replaced with a
different pair of nucleotides.
What are some possible results of base-pair no effect on the protein being coded for.
substitutions?
What are base-pair insertions and deletions? Insertions and deletions are mutations that
occur when nucleotides are added or removed
from the DNA sequence.
What are the effects of base-pair insertions and These types of mutations often have a dramatic
deletions? effect on the resulting protein molecule.
Genetic Variation
Why are inherited mutations important for Inherited mutations are an important source of
evolution? genetic variation within a species.
What are germ line mutations? Mutation that occurs in reproductive cells and
ends up being carried by gametes (eggs and
sperm).
When would an offspring not exhibit an If the offspring inherits a copy of the mutated
inherited mutation? DNA, the effects of the mutation may not be
exhibited in the offspring’s phenotype if it is
located on a recessive allele.
When is cystic fibrosis exhibited? This disease is completely recessive, so the
offspring must inherit the mutated gene from
both parents to exhibit the disease.
Gene Expression
How can cells control gene expression? Specific DNA-building proteins interact with
the environment and other proteins to
determine what genes should be copied in
transcription and expressed in translation.
Do all body cells express the same genes? All body cells contain a full set of
chromosomes, yet the specialized cells of
various parts of the body differ in terms of
structure and function. This is because only
certain genes are expressed in a given cell,
based on the needs of that cell.
Helpful and Harmful Mutations
What are some advantages and disadvantages Some change a gene or chromosome
of mutations? completely, while others may cause just a small
change or no detectable change at all.
What is a neutral mutation? Many mutations are neutral because they have
little to no effect on the expression of the genes
or the functions of the proteins produced.
Examples of Mutations: Briefly describe the following mutations and some that may occur
Sickle Cell Sickle-cell disease is a genetic disorder that
gives red blood cells a crescent shape instead
of the typical disk shape.
Non-Disjunction Non-disjunction :Error during meiosis in which
homologous or sister chromosomes fail to
separate properly
Non-disjunction occurs when a homologous
pair fails to separate during anaphase I of
meiosis, or sister chromatids fail to separate
during anaphase II.
Cystic Fibrosis Cystic fibrosis is a recessive genetic disease
that can cause thick mucus to build up in the
lungs and digestive tract
Insects Insects benefit from mutations that help make
them resistant to chemical pesticides
Humans Some humans have experienced mutations that
increase resistance to HIV, the virus that causes
AIDS.
Breeding Plant and animal breeders use beneficial
mutations by breeding together organisms that
contain a mutation they want to pass on to the
offspring.
Mutagens
What is a mutagen? an agent, such as radiation or a chemical
substance, which causes genetic mutation.
What are some examples of physical Physical mutagens include electromagnetic
mutagens? radiation, such as gamma rays, X rays, and UV
light, and particle radiation, such as fast and
thermal neutrons, beta and alpha particles.
What are some examples of chemical chemical mutagens are alkylating agents such
mutagens? as ethylmethane sulfonate and
N-methyl-N-nitrosourea that induce point
mutations in DNA.
How do mutagens produce mutations? Some mutagens mimic normal bases and
are incorporated into DNA, where they can
mispair.
Cancer
What is cancer? a disorder in which the body cells lose the
ability to control cell growth. As a result, the
cells divide uncontrollably.
What is a tumor? Cancer cells can form a mass of cells called a
tumor, but not all tumors are cancerous
What is the difference between benign tumor Benign tumors are noncancerous and do not
and malignant tumor? spread to surrounding healthy tissue. Malignant
tumors are cancerous
What happens when cancer cells spread? They invade and destroy surrounding healthy
tissue and can spread to other parts of the body.
How do cancer cell affect regular cell and they interfere with the regular functions of an
organ functions? organism’s cells and organs.
Many cancer cells have a defect in the p53 P53 is responsible for delaying the cell cycle
gene. What is the function of this gene? until all chromosomes are replicated
Why is radiation an effective treatment for cancer cells grow rapidly, they replicate their
cancer? DNA faster than most normal cells. This often
makes the cancer cells vulnerable to damage
from radiation. This is why some tumors can
be effectively treated with targeted beams of
radiation.
Sample Question:
Without mutations, there would not be ____.
A. identical offspring.
B. increase in populations.
C. genetic diversity.
D. increase in DNA.

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