Question 1

An alteration in the sequence of a gene. This is the most generic term

Accepted Answer

variant:

Question 2

1. a rare allele or newly arisen allele
2. the event of a variant being produced

Accepted Answer

mutant, mutation

Question 3

This is a variant that is found at a significant frequency in a population. The term is used when there are at least two alleles and the second most common allele has a population frequency at least 1%

Accepted Answer

polymorphism

Question 4

This is a mutation that passed from a parent to offspring via sperm or egg. Either a parent had that genotype or the mutation occurred in their gametogonia. Such mutations are hereditary

Accepted Answer

germline mutation

Question 5

This is a mutation that happens in a somatic cell. These CANT  be inherited, though they may affect the individual in which it happens. All cancers involve somatic mutations.

Accepted Answer

somatic mutation

Question 6

This refers to when a mutation first happens.ex) two people have a child with a genetic disease yet DNA testing shows that neither of them carries the mutant allele that the child has.

Accepted Answer

De Novo mutation

Question 7

is an individual who has a mutation in some patches of cells in their body but not others.

Accepted Answer

mosaic

Question 8

Classfying Mutations 3 things

Accepted Answer

1. by how the DNA sequence changed
2. by where the mutation happened relative to gene structure
 3. by how they affect genotype

Question 9

is when one base is changed

Accepted Answer

Base substitution (transitons, transversions)

Question 10

(A)Purine --> (G)purine  or Pyrimidine to Pyrimidine  (T-C)

Accepted Answer

Transitions

Question 11

purine to pyrimidine or pyrimidine to purine
for example A changed C

Accepted Answer

Transversions

Question 12

which occurs more freq. transitions or transversions

Accepted Answer

transversions occur more frequently

Question 13

is a base substitution that is common in a population.

Accepted Answer

single nucleotide polymorphism (SNP)

Question 14

refers to insertions or deletions

Accepted Answer

Indel mutations

Question 15

s the duplication or deletion segment of DNA from 1 kilobase (kb) to a few hundred kb, though most are 1 - 10 kb range. (kb = 1,000 bases). may have three or more copies and some will have one or none. on a chromosome

Accepted Answer

Copy Number Variations (CNV)

Question 16

a deletion of segment of chromosome big enough to contain a few genes. 

 Prader-Willi syndrome or Angelman syndrome

Accepted Answer

microdeletion

Question 17

Repetitive DNA is a DNA sequence that is present more than once per haploid genome. DNA sequences in which the same sequence is present multiple times, one after another.

Accepted Answer

Variation in tandem repeats

Question 18

tandem repeats mutate by ?

Accepted Answer

adding or loosing repeats over the generations, mutate more rapid than single copy sequences

Question 19

one of the many kinds of tandemly repeated DNA. They are sequences in the DNA where a three base sequence is repeated over and over again in tandem

Accepted Answer

Trinucleotide repeats

Question 20

36 or more tandem repeats of a three base sequence CAG results in what disease

Accepted Answer

Huntington Disease

Question 21

DNA sequences that can insert themselves at random points in the genome. These include transposons and retroviruses.

Accepted Answer

Mobile genetic elements

Question 22

They can insert in the middle of genes and disrupt their function. However, they can also cause modifications to genes by introducing new regulatory sequences or combining parts of different genes.

Accepted Answer

inserting mobile genetic elements

Question 23

Mutations in the coding region are classified by

Accepted Answer

there effect on codons

Question 24

A base substitution mutation in the nucleotide sequence of a codon such that it still encodes the same amino acid.

UCU (serine) --> UCC (serine)

Accepted Answer

Synonymous mutation

Question 25

synonymous: sometimes called______ mutation because there is no change in the amino acid sequence, but sometimes synonymous mutations do affect the gene because they can affect the efficiency with which the mRNA is____.

Accepted Answer

silent ,translated

Question 26

A base substitution mutation in the nucleotide sequence of a codon such that alters what it encodes.

Accepted Answer

Nonsynonymous mutation

Question 27

2 types of NON synonymous mutations

Accepted Answer

Missense  & Nonsense

Question 28

A base substitution mutation in the nucleotide sequence of a codon such that it encodes a different amino acid. 
UCU (serine) --> CCU (proline)

Accepted Answer

Missense Mutation

Question 29

Sickle cell disease is caused by

Accepted Answer

a missense mutation in the HBB gene.

Question 30

A base substitution in the nucleotide sequence that changes a codon for an amino acid to a STOP codon. 

UUA (leucine) --> UGA (STOP)

Accepted Answer

Nonsense mutation

Question 31

a base substitution in 17th codon that turns AAG (lys) to UAG (stop)

Accepted Answer

beta-0-thalassemia

Question 32

is caused by deletion of bases from or insertion of bases into an open reading frame,1 or 2 inserts or deletes

Accepted Answer

Frameshift

Question 33

Missense Mutation in the PMEL17 gene (premelanocyte protein 17 gene)  causes the “_______” trait in horses

Accepted Answer

silver

Question 34

insertions or deletions in multiples of THREE won’t cause a frame shift, but they will insert or delete amino acids from the polypeptide.

Accepted Answer

In Frame Deletions and Insertions

Question 35

a mutation in the promotor can interfere with ?

Accepted Answer

transcription

Question 36

a mutation of an enhancer or regulatory promotor would ?

Accepted Answer

decrease the rate of transcription

Question 37

These mutations won’t change what the gene encodes, but they can change how much gene product is produced or when or where the gene is expressed.

Accepted Answer

Promoter Mutations / Regulatory Mutations

Question 38

This is a mutation to a sequence within the gene that is needed for splicing and the result is an abnormally spliced mRNA. This can then alter the protein that is encoded.

Accepted Answer

Splice site mutations

Question 39

Type I von Willebrand disease in some dogs breeds and some humans can be due to a splice site mutation in the VWF gene. As a result,

Accepted Answer

an intron is not removed and a large sequence is added in the middle of the mRNA that is not encoding the proper protein.

Question 40

5’ splice site in Intron 25

Accepted Answer

AProtein Not Expressed

Question 41

have the ability to move from one position in the genome to another

Accepted Answer

Transposons

Question 42

incorporates into the genome when a retrovirus infects a cell.

Accepted Answer

Retrovirus DNA

Question 43

Two of the ways that mobile genetic elements  can impact a gene are:

Accepted Answer

1. insertion (protein completely loses function) 
2. Introducing new functional parts to a gene.

Question 44

when a transpoon inserts near a promotor it introduces new regulatory  sequences this results in ?

Accepted Answer

alteration of gene expression

Question 45

is one that results in complete or partial loss of normal gene function.

Accepted Answer

loss-of-function mutation

Question 46

complete loss of function is a ?

Accepted Answer

null mutation

Question 47

Albinism is an example of what mutation ?

Accepted Answer

loss of function mutation

Question 48

Silent mutations affect phenotype ?

Accepted Answer

no affect

Question 49

mutation is that which causes an increase in activity or new activity for the gene’s product.

Accepted Answer

Gain of function Mutation

Question 50

Antennapedia mutations in fruit flies cause legs to form on their heads where antennae should be. this is an ?

Accepted Answer

EXAMPLE OF GAIN OF FUNCTION

Question 51

mutation is one that causes death of the organism with the mutation. For example mutations in the kit gene in horses are recessive lethal. If a horse embryo is homozygous for kit mutations it will die in utero.

Accepted Answer

Lethal Mutation

Question 52

only affects phenotype under certain circumstances, and has no effect on phenotype under others.

Accepted Answer

A conditional mutation

Question 53

example of conditional mutation

Accepted Answer

is the temperature sensitive mutation in the tyrosinase gene that produces the Himalayan phenotype in cats and other mammals.

Question 54

masks the effect of another mutation.

Accepted Answer

suppressor mutation

Question	Answer
An alteration in the sequence of a gene. This is the most generic term	variant:
1. a rare allele or newly arisen allele 2. the event of a variant being produced	mutant, mutation
This is a variant that is found at a significant frequency in a population. The term is used when there are at least two alleles and the second most common allele has a population frequency at least 1%	polymorphism
This is a mutation that passed from a parent to offspring via sperm or egg. Either a parent had that genotype or the mutation occurred in their gametogonia. Such mutations are hereditary	germline mutation
This is a mutation that happens in a somatic cell. These CANT be inherited, though they may affect the individual in which it happens. All cancers involve somatic mutations.	somatic mutation
This refers to when a mutation first happens.ex) two people have a child with a genetic disease yet DNA testing shows that neither of them carries the mutant allele that the child has.	De Novo mutation
is an individual who has a mutation in some patches of cells in their body but not others.	mosaic
Classfying Mutations 3 things	1. by how the DNA sequence changed 2. by where the mutation happened relative to gene structure 3. by how they affect genotype
is when one base is changed	Base substitution (transitons, transversions)
(A)Purine --> (G)purine or Pyrimidine to Pyrimidine (T-C)	Transitions
purine to pyrimidine or pyrimidine to purine for example A changed C	Transversions
which occurs more freq. transitions or transversions	transversions occur more frequently
is a base substitution that is common in a population.	single nucleotide polymorphism (SNP)
refers to insertions or deletions	Indel mutations
s the duplication or deletion segment of DNA from 1 kilobase (kb) to a few hundred kb, though most are 1 - 10 kb range. (kb = 1,000 bases). may have three or more copies and some will have one or none. on a chromosome	Copy Number Variations (CNV)
a deletion of segment of chromosome big enough to contain a few genes. Prader-Willi syndrome or Angelman syndrome	microdeletion
Repetitive DNA is a DNA sequence that is present more than once per haploid genome. DNA sequences in which the same sequence is present multiple times, one after another.	Variation in tandem repeats
tandem repeats mutate by ?	adding or loosing repeats over the generations, mutate more rapid than single copy sequences
one of the many kinds of tandemly repeated DNA. They are sequences in the DNA where a three base sequence is repeated over and over again in tandem	Trinucleotide repeats
36 or more tandem repeats of a three base sequence CAG results in what disease	Huntington Disease
DNA sequences that can insert themselves at random points in the genome. These include transposons and retroviruses.	Mobile genetic elements
They can insert in the middle of genes and disrupt their function. However, they can also cause modifications to genes by introducing new regulatory sequences or combining parts of different genes.	inserting mobile genetic elements
Mutations in the coding region are classified by	there effect on codons
A base substitution mutation in the nucleotide sequence of a codon such that it still encodes the same amino acid. UCU (serine) --> UCC (serine)	Synonymous mutation
synonymous: sometimes called______ mutation because there is no change in the amino acid sequence, but sometimes synonymous mutations do affect the gene because they can affect the efficiency with which the mRNA is____.	silent ,translated
A base substitution mutation in the nucleotide sequence of a codon such that alters what it encodes.	Nonsynonymous mutation
2 types of NON synonymous mutations	Missense & Nonsense
A base substitution mutation in the nucleotide sequence of a codon such that it encodes a different amino acid. UCU (serine) --> CCU (proline)	Missense Mutation
Sickle cell disease is caused by	a missense mutation in the HBB gene.
A base substitution in the nucleotide sequence that changes a codon for an amino acid to a STOP codon. UUA (leucine) --> UGA (STOP)	Nonsense mutation
a base substitution in 17th codon that turns AAG (lys) to UAG (stop)	beta-0-thalassemia
is caused by deletion of bases from or insertion of bases into an open reading frame,1 or 2 inserts or deletes	Frameshift
Missense Mutation in the PMEL17 gene (premelanocyte protein 17 gene) causes the “_______” trait in horses	silver
insertions or deletions in multiples of THREE won’t cause a frame shift, but they will insert or delete amino acids from the polypeptide.	In Frame Deletions and Insertions
a mutation in the promotor can interfere with ?	transcription
a mutation of an enhancer or regulatory promotor would ?	decrease the rate of transcription
These mutations won’t change what the gene encodes, but they can change how much gene product is produced or when or where the gene is expressed.	Promoter Mutations / Regulatory Mutations
This is a mutation to a sequence within the gene that is needed for splicing and the result is an abnormally spliced mRNA. This can then alter the protein that is encoded.	Splice site mutations
Type I von Willebrand disease in some dogs breeds and some humans can be due to a splice site mutation in the VWF gene. As a result,	an intron is not removed and a large sequence is added in the middle of the mRNA that is not encoding the proper protein.
5’ splice site in Intron 25	AProtein Not Expressed
have the ability to move from one position in the genome to another	Transposons
incorporates into the genome when a retrovirus infects a cell.	Retrovirus DNA
Two of the ways that mobile genetic elements can impact a gene are:	1. insertion (protein completely loses function) 2. Introducing new functional parts to a gene.
when a transpoon inserts near a promotor it introduces new regulatory sequences this results in ?	alteration of gene expression
is one that results in complete or partial loss of normal gene function.	loss-of-function mutation
complete loss of function is a ?	null mutation
Albinism is an example of what mutation ?	loss of function mutation
Silent mutations affect phenotype ?	no affect
mutation is that which causes an increase in activity or new activity for the gene’s product.	Gain of function Mutation
Antennapedia mutations in fruit flies cause legs to form on their heads where antennae should be. this is an ?	EXAMPLE OF GAIN OF FUNCTION
mutation is one that causes death of the organism with the mutation. For example mutations in the kit gene in horses are recessive lethal. If a horse embryo is homozygous for kit mutations it will die in utero.	Lethal Mutation
only affects phenotype under certain circumstances, and has no effect on phenotype under others.	A conditional mutation
example of conditional mutation	is the temperature sensitive mutation in the tyrosinase gene that produces the Himalayan phenotype in cats and other mammals.
masks the effect of another mutation.	suppressor mutation

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Genetics t5

Mutations