GENETIC MUTATIONS

Writing Task Cards

MIZZZ FOSTER ©2015
 What is a karyotype?
(2 sentences)
A karyotype is a picture of an individuals chromosomes.
In the karyotype you can see your chromosomes through
a microscope.
 What is monosomy? Give an
example of a monosomy
disorder.
(2 sentences)
Monosomy is a condition in which a diploid chromosomes complement
which most of the times is the X chromosome and it lacks its
homologous pair. An example of this disorder would be Turner syndrome.
What is a mutation where only
a single nucleotide is changed?
Does this harm the organism?
Explain. (5 sentences)
A base subsituition mutation is when only nucleotide is changed. Although
this mutation only affects one nucleotide it can harm protein count.
Because of this impact on protein production it can cause harm. This is
only a small risk though as this type of mutattion is one of the least dangerous.
 Describe what happens in a
point mutation. (3 sentences)
In a point mutation a single nucleotide will be changed and it will cause a
protein to be deformed and not functioning. This can be caused by a
single nucleotide being deleted, substituted, or entering a DNA sequence
that already exists. This can cause a change in your amino acids and
will start to build proteins.
 What is a trisomy disorder?
(2 sentences)
A trisomy disorder is a type of mutation that affects your chromosomes.
In a trisomy your chromosome pair is duplicated so you have three
chromosomes for that one pair.
 List the four common causes of
genetic mutations and explain each.
(4 sentences)
Four common causes of genetic mutations first includes spontaneous
mutations that can happen from molecular decay. Second would be
mutations caused from error-prone replication bypass and is naturally
occurring DNA damage. Third is from errors that are caused during DNA
repairs. Lastly, mutations that are caused by mutagens.
 Explain how a DNA sequence
becomes a protein.
(6 sentences)
For a DNA sequence to turn into a protein first the DNA must be transported
to the mRNA by a process we call transcription. Next the mRNA is to now
turn into a mature RNA molecule. Once it has matured it can be translated.
Once the mRNA is translated it can be encoded by the original gene. Now
the DNA sequence has created a protein.
 Can all genetic disorders be
identified through karyotype
analysis? Explain.
(4 sentences)
Yes, a karyotype is able to identify all genetic disorders. This is because
of what genetic disorders are. Genetic disorders can form from chromosomes
arranged wrong, or wrongly formed. A karyotype is a picture of all of
our chromosomes. because of this we can see chromosomes through
the karyotype and identify any genetic disorders.
 What is nondisjunction?
(2 sentences)
Nondisjunction is when there either one or more pairs of homologous
chromosomes or they could be sister chromatids seperate normally in
nuclear divison. This will then end up having an abnormal release of daughter
chromosomes.
 Explain what happens during
translocation. Does if affect the
organism? Explain.
(6 sentences)
During translocation one of the segments from a chromosome are brought
over to a non-homologous pair. They can also be brought to a whole new
site on the same chromosome. During translocation genes are rearranged
into new relationships. They can be put in general chromosomes. As well
as without normal pairing partners. Rarely does this ever effect the organism.
 What happens when an
organism does not synthesize
the correct protein?
(4 sentences)
For an organism to synthesize correctly they will need RNA. These molecules
will then deliver the message of what process to carry out. this will then
lead to proteins being created. Without this the DNA repair would not
happen. This leads to mutations and problems for the organism.
 Are all mutations bad? Explain
(5 sentences)
The answer is no, not all mutations are considered to be bad or give any
negative affects. Most of the time mutations do not give any affects at all.
Some disorders leads to no health or development issues. For some
individuals their DNA sequence could be altered. This occurrence tho
does not affect how the function or have negative causes.
 Give an example of a genetic
disorder caused by a point
mutation. Describe the disorder.
(3 sentences)
A genetic mutation caused by point mutation would be PKU. People
diagnosed with PKU are not able not break down phenylalanine. So as a
alternative it creates a poison and causes nerve damage.
 How many chromosomes
should humans have at each
number in their karyotype?
Why? (4 sentences)
Every human should have only two chromosomes at each number on their
karyotype. This is because your chromosomes are from your mother and
father. Every person should have a pair at each number. One from their
mother and the other from their mother.
 How do mutations drive
evolution?
(4 sentences)
Although it does not happen every time some mutations could actually drive
mutations. This is an occasional occurrence and could drive evolution. These
mutations would have a survival advantage for the species. This mutation
can now be passed on and grow the population further and evolve them.
What is the advantage of sickle
cell anemia in Africa?
(2 sentences)
Sickle cell anemia is mainly found in Africa Americans and others who are
part of the mediterranean. This is an advantage because it increases the
survival of African children which results in a higher population.
Why do food products have a
warning about phenylalanine?
(2 sentences)
Food products must worn the use of phenylalanine because of people with
PKU disorder. This disorder creates phenylalanine into a poison.
 Which genetic disorder results
in XXY? What are three
characteristics of this disorder.
(3 sentences)
Klinefelter's syndrome is a genetic mutation that results in chromosomes as
XXY. Characteristics would include female and male sex characteristics.
Although having a male genital and have breasts.
 How does codon duplication
affect the final protein
product? (2 sentences)
A codon duplication is when the nucleotides in a DNA sequence is
duplicated. Then in the final protein sequence there will be a whole
chromosome duplicated in the organism's genome.
 Explain inversion mutation.
(2 sentences)
Inversion mutation is when a mutation occurs when a piece of the
chromosome breaks off. It will flip and then reattach itself, this happens
when there is an extra copy of a gene.
 What is a pedigree and how
are they used?
(4 sentences)
A pedigree is a way for us to make predictions over what two peoples
offspring traits will be ended up with. Starting off with both the parents
chromosomes. one set will be placed at the top of the square the other at
the bottom. You cross each of them and then can view four versions.
 What causes frame-shift
mutations?
(2 sentences)
Frame shift mutations is when two or more nucleotides cause another
amino acid to change and results in poor proteins. This can be caused
by deletion, insertion, duplication, and inversion.
 What is polysomy and how
does if affect an organism?
(2 sentences)
A polysomy is when there are two or more copies of a single chromosome.
This can affect the organism by creating too much left over of proteins
that are trying to be synthesized.
 Define sex-linked genetic
disorders.
(2 sentences)
Sex linked mutations are mutations that are only found in a certain mutation,
meaning only that gender could obtain that mutation. These mutations
are on the sex chromosomes and affect them in some way.
 Name one sex-linked genetic
disorder and describe it’s
symptoms.
(3 sentences)
A sex linked gene would be color blindless that mainly men can get. This is
because it is a sex-linked gene. It is found on the X chromosome and
makes a person not see color properly.
 How are most sex-linked
genetics disorders inherited?
Why?
(5 sentences)
Sex linked disorder are mainly inherited from being passed down from your
family and parents. This is because sex linked mutations are on the X
and Y chromosomes. By using a pedigree you can grab both sex
chromosomes and view what mutations your offspring would get. Dominant
and recessive traits are passed on. These cna lso be recessive and passed
on to the next offspring.
Who do the squares and circles
represent on a pedigree?
(1 sentences)
On a pedigree circle represent females and squares represent males.
On a pedigree each circle or square that is unaffected is left blank. For the
circles that are placed with a line through it shows females who are
carrying but not affected. And if they are half filled in they are affected.

How can you distinguish

between an unaffected
individual, carrier and affected
individual on a pedigree?
(3 sentences)
 What genes are found on the
Y- chromosome?
(2 sentences)
Two genes that are found in the Y chromosome can affect sperm and sight.
One of the genes cause lack of sperm production as the other can form
a black pigmentation that gradually grows around the retina.
 Name and describe a disease
that has the duplication
mutation.
(3 sentences)
A disease that has a duplication mutation would be Huntington disease.
This disease is a degenerative disease and can affect a person as they
age. Huntington disease people have 40 or more repeats.
 Name and describe a disease
that has the inversion
mutation.
(3 sentences)
A disease with inversion mutation would be progeria. In progeria a segment
of your DNA is deleted, flips, reinserted. Progeria will cause premature
aging in an individual.
 Define mutation. What
environmental factors cause
mutations?
(2 sentences)
A mutation is a mess up or mistake made in a person's DNA sequence.
Environmental factor that cause mutations are called mutagens.