MOL BIO LAB L3 & 4 (Prelim- DNA Mutation)

Question 1

A region of DNA that encodes function

Answer 1

Gene

Question 2

TRUE OR FALSE: Mutation carry the information that determines your trait, which are features or characteristics that are passed on to you or inherited from your parents

Answer 2

FALSE. Genes carry the information that determines your trait

Question 3

One or two or more versions of a gene; an individual inherits two of these for each gene, one from each parent

Answer 3

Alleles

Question 4

Specific physical location of a gene or other DNA sequence on a chromosome

Answer 4

Locus

Question 5

A difference in DNA sequence among
individuals, groups, or populations

Answer 5

Genetic Polymorphism

Question 6

Involves one of two or more variants of a
particular DNA sequence

Answer 6

Genetic Polymorphism

Question 7

This is the most common type of Genetic Polymorphism

Answer 7

Variation at a single base pair

Question 8

If a difference in DNA sequence among individuals has been shown to just be associated with diseases it will usually be called a

Answer 8

genetic mutation

Question 9

Changes in the DNA sequence that have been confirmed to be caused by external agents are also generally called

Answer 9

mutations

Question 10

Polymorphisms arise through?

Answer 10

mutations

Question 11

A permanent alteration of a nucleotide
sequence of a gene

Answer 11

Mutation

Question 12

A change in DNA sequence of the Genome of a particular organism

Answer 12

Mutation

Question 13

The presence of more than one allele at a particular locus in a particular population

Answer 13

Polymorphism

Question 14

Polymorphism is a variant t that is present in at least _____ to ____of a population

Answer 14

1% to 2%

Question 15

Mutations can either be?

Answer 15

hereditary or acquired

Question 16

A physical event so it can happen to just one person so there is a permanent alteration of a nucleotide or sequence of a gene in that one particular person.

But if it’s a population attribute it is?

Answer 16

mutation; polymorphism

Question 16

DNA variants that can occur due to errors in DNA replication or external factors such as UV and chemical

Answer 16

mutation and polymorphism

Question 17

A sequence of two or more DNA based pairs that is repeated in such a way that the repeats lie adjacent to each other on the chromosome

Answer 17

Tandem repeats

Question 18

Generally associated with non-coding DNA

Answer 18

Tandem repeats

Question 19

This type of DNA Polymorphism is used in DNA fingerprinting procedures

Answer 19

Tandem repeats

Question 20

Which does not belong to the group:
Example of standard repeats include
- simple sequence repeats (SSRs)
- microsatellites
- Short Tandem Repeats (STRs)
- mini satellites

Answer 20

Short Tandem Repeats (STR’s)

Question 21

Areas within the genome in which
variation is normal and healthy.

Answer 21

Polymorphism

Question 21

Are very short stretches of DNA that are repeated back to back at various locations throughout the human genome

Answer 21

Short Tandem Repeats (STRs)

Question 22

The maximum number of base pairs in Short Tandem Repeats (STRs)

Answer 22

16

Question 23

For any specific STR, each person will have how many copies?

Answer 23

two copies: 1 inherited from the mother at conception and 1 inherited from the father

Question 24

These are helpful in forensic and paternity testing because these have a lot of natural variations

Answer 24

Short Tandem Repeats (STRs)

Question 25

The analysis of why chromosomes STRs and paternity testing or potential paternal relationships is very important especially in cases in which?

Answer 25

a potential father is not available and sexual assault cases where chromosome STRs are used to identify the male offender

Question 26

Reported that the male DNA was detectable even in the ratio of?

Answer 26

1:2000 That is one male for every two thousand females by Y-chromosome STR analysis

Question 27

A type of polymorphism that is present at a particular nucleotide side

Answer 27

Single Nucleotide Polymorphism

Question 28

This may arise from a substitution of one nucleotide by another at a polymorphic site

Answer 28

Single Nucleotide Polymorphism (SNPs)

Question 29

The replacement of one purine nucleotide by another purine nucleotide or one pyrimidine by another

Answer 29

Transition

Question 30

A SNP may also be a single base insertion or deletion variant referred to as?

Answer 30

INDEL

Question 31

A variation in which a segment of DNA can be found in various copy numbers in the Genome of different individuals

Answer 31

Copy-number Polymorphism

Question 32

Compared to SNPs, These affect a more significant fraction of the genome and arise more frequently.

Answer 32

Copy-number Polymorphism or CNPs

Question 33

Significantly contribute to human evolution, genetic diversity, and an increasing number of phenotypic traits

Answer 33

Copy-number Polymorphism or CNPs

Question 34

Can affect phenotypes by alteration of levels of genes and Gene products both at the level of transcription of genomic DNA to RNA message and presumably a translation of the RNA message to the protein product

Answer 34

Copy-number Polymorphism or CNPs

Question 35

It can result from DNA copying mistake during cell division, exposure to ionizing radiation, exposure to chemicals called mutagens, or infections by viruses

Answer 35

Mutation

Question 36

A mutation that occurs in the eggs and sperm and can be passed on to offspring

Answer 36

Germline Mutation

Question 37

A mutation that occur in body cells and are not passed on

Answer 37

Somatic Mutation

Question 38

For mutations to affect an organism descendants they must first occur in cells that produce the next generation. In other words there must be?

Answer 38

Germline

Question 39

Due to a breakage where a piece of a chromosome is lost

Answer 39

Deletion

Question 40

A change in the structure of a chromosome or where there is a loss or gain part of a chromosome

Answer 40

Chromosomal Mutations

Question 41

Chromosome segment breaks up; chromosome segment flip around backwards then segment reattaches

Answer 41

Insertion

Question 42

Failure of chromosomes to separate during meiosis and causes the gametes to have too many or too few chromosomes

Answer 42

Nondisjunction

Question 43

When a gene sequence is repeated

Answer 43

Duplication

Question 44

In addition to translocations, _____ and _________ chromosomes may or may not result in loss of chromosomal material

Answer 44

ring; derivative

Question 45

Involves 2 chromosomes that are not homologous and part of one chromosome is transferred to another chromosome

Answer 45

Translocation

Question 46

Insertions without ________ of the inserted regions and ______ will result in gain or loss of DNA

Answer 46

duplication; deletions

Question 47

Examples of nondisjunction

Answer 47

- Down syndrome - Turner syndrome - Kleinfelter syndrome (XXY chromosome)

Question 47

Change in the nucleotide sequence of a gene; may only involve a single nucleotide, maybe due to copying errors, chemical viruses

Answer 47

Gene Mutation

Question 48

“Trisomy 21” (three 21st chromosome)

Answer 48

Down syndrome

Question 49

Associated with physical growth delays characteristic facial features and mild to moderate intellectual disability

Answer 49

Down syndrome

Question 50

45, X; A condition that only affects females wherein a girl is born with only one sex chromosome, an X-chromosome

Answer 50

Turner syndrome

Question 51

Can cause a variety of medical and developmental problems including short height, failure of the ovaries to develop, and heart defects

Answer 51

Turner syndrome

Question 52

A genetic disorder that affects males, it occurs when a boy is born with one or more extra X chromosome

Answer 52

Kleinfelter syndrome (XXY chromosome)

Question 53

In ________ syndrome, most ______ have one Y and One X chromosome having extra X chromosomes can cause them to have some physical traits that are unusual such as weaker muscles, greater height, poor coordination or less body hair and sterility

Answer 53

Kleinfelter; Males

Question 54

A change of a single nucleotide; it includes the deletion, insertion, or substitution of one nucleotide in a gene

Answer 54

Point Mutation

Question 54

One that does not result in a change of amino acid because of the degeneracy of the genetic code

Answer 54

Silent Mutation

Question 55

A substitution that changes according coding for one amino acid to a codon coding for a different amino acid

Answer 55

Missense mutation

Question 56

A mutation that results in an amino acid that is similar in function and properties to the original amino acid

Answer 56

Conservative type of Missense Mutation

Question 57

Alteration in nucleotide caused the formation of a completely different kind

Answer 57

Non-conservative type of Missense Mutation

Question 58

A type of non-synonymous codon change in which a stop codon is formed thereby leading to premature termination of a polypeptide chain and formation of a truncated protein

Answer 58

Nonsense mutation

Question 59

An opposite of the nonsense mutation; a non-synonymous codon change that causes the destruction of a stop codon that resulted in an extended polypeptide product

Answer 59

Read-through Mutation

Question 60

Inserting or deleting one or more nucleotides. Changes in the “reading frame” like changing the sentence; causes proteins to be built incorrectly

Answer 60

Frameshift Mutation

Question 61

Exchanges one base for another or a single chemical letter such as switching an A to G

Answer 61

Substitution Mutation

Question 62

In frameshift mutation, this refers to the addition of one or more nucleotide base pairs into the DNA sequence

Answer 62

Insertion Mutation

Question 63

Spontaneous isomerization of a nitrogen base to an alternative hydrogen-bonding form, possibly resulting in a mutation

Answer 63

Tautomeric Shifts

Question 64

Increases the chance of paring during a replication

Answer 64

tautomers

Question 65

Differ by only a single proton shift in the molecule. The shape changes the bonding structure of the molecule and allows the hydrogen bonding with the non-complementary basis for automatic shape mainly to permanent base pair changes and mutations

Answer 65

Tautomers