dna damage and mutation

Question 1

one or more two versions of a gene

Answer 1

allele

Question 2

region of dna that encodes function

Answer 2

gene

Question 3

specific physical location of a gene or other DNA

Answer 3

locus

Question 4

difference in DNA sequence among individuals, groups, or populations

Answer 4

genetic polymorphisms

Question 5

most common type of genetic polymorphisms

Answer 5

Variation at a single base pair

Question 6

Genetic polymorphism may be the result of chance processes or may have been induced by external agents such as __

Answer 6

viruses or radiation

Question 7

sources of genetic polymorphism

Answer 7

• single nucleotide polymorphism
• sequence repeats
• insertion
• deletion
• recombination

Question 8

refers to a difference in DNA sequence among individuals has been shown to just be associated with diseases

Answer 8

genetic mutation

Question 9

A permanent alteration of a nucleotide sequence of a gene or a change in DNA sequence of the Genome of a particular organism

Answer 9

mutation

Question 10

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

variant that is present in at least 1% to 2% of a population

Answer 10

polymorphisms

Question 11

enumerate the types of DNA polymorphism

Answer 11

• tandem repeats
• short tandem repeats
• single nucleotide polymorphism
• copy number polymorphism

Question 12

enumerate the types of mutation

Answer 12

• chromosomal mutation
• gene mutation

Question 13

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

generally associated with non-coding DNA

Answer 13

tandem repeats

Question 14

examples of standard repeats

Answer 14

• simple sequence repeats
• microsatellites
• minisatellites

Question 15

variable tandem repeats are used in?

Answer 15

DNA fingerprinting

Question 16

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

Answer 16

short tandem repeats

Question 17

this is helpful in forensic and paternity testing because there are a lot of natural variations

Answer 17

STR short tandem repeats

Question 18

a polymorphism present at a particular nucleotide side

Answer 18

single nucleotide polymorphism

Question 19

SNPs may arise from a __ of one nucleotide by another at a polymorphic site. a __ can be transitions.

Answer 19

substitution

Question 20

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

Answer 20

transition

Question 21

a SNP may also be a ___ or __ referred to as INDEL

Single Nucleotide Polymorphism

Answer 21

single base insertion or deletion variant

Question 22

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

Answer 22

copy-number polymorphisms

Question 23

occur in the eggs and sperm and can be passed on to offspring

Answer 23

germline mutation

Question 24

somatic mutation occur in __ and are not passed

Answer 24

body cells

Question 25

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

Answer 25

chromosomal mutations

Question 26

mutation can be caused by?

Answer 26

- cell division - exposure to ionizing radiation - exposure to mutagents - infections - virus

Question 27

chromosomal mutations can be?

Answer 27

- deletion - insertion - duplication - translocation

Question 28

a chromosomal mutation due to a breakage where a piece of a chromosome is lost

Answer 28

deletion

Question 29

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

Answer 29

insertion

Question 30

when a gene sequence is repeated

Answer 30

duplication

Question 31

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

Answer 31

translocation

Question 32

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

Answer 32

non-disjunction

Question 33

associated with physical growth delays characteristic facial features and mild to moderate intellectual disability what chromosome is affected?

Answer 33

**down syndrome** three 21st chromosome

Question 34

A condition that only affects females wherein a girl is born with only one sex chromosome, an __

Answer 34

**turner syndrome** X chromosome

Question 35

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

Answer 35

turner syndrome

Question 36

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

Answer 36

**kleinfelter syndrome** XXY chromosome

Question 37

this syndrome can cause a male to have some physical traits unusual for males such as weaker muscles, greater height, poor coordination or less body hair and sterility

Answer 37

**kleinfelter syndrome** XXY chromsome

Question 38

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

Answer 38

gene mutations

Question 39

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

Answer 39

point mutation

Question 40

a mutation which one that does not result in a change of amino acid because of the degeneracy of the genetic code

Answer 40

silent mutation

Question 41

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

Answer 41

missense mutation

Question 42

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

Answer 42

conservative missense mutation

Question 43

alteration in nucleotide caused the formation of a completely different kind of amino acid in the chain

Answer 43

non-conservative missense mutation

Question 44

a mutation in which a 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 44

nonsense mutation

Question 45

a mutation in which an *opposite of the nonsense mutation*; a non- synonymous codon change that causes the destruction of a stop codon that were resulting in an **extended polypeptide product**

Answer 45

read-through mutation

Question 46

Inserting or deleting one or more nucleotides

Answer 46

frameshift mutation

Question 47

Changes the “reading frame” like changing the sentence; causes proteins to be built incorrectly

Answer 47

frameshift mutation

Question 48

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

Answer 48

substitution mutation

Question 49

addition of one or more nucleotide base pairs into DNA sequence

Answer 49

insertion mutation

Question 50

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

Answer 50

tautomeric shifts

Question 51

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

Answer 51

tautomeric shifts

Question 52

what is the difference between mutation and polymorphism?

Answer 52

the frequency of occurrence mutation: affects **one person** polymorphism: affects a particular **population**

Question 53

mutation results from DNA copying mistake during ___

Answer 53

- cell division - exposure to ionizing radiation - exposure to mutagens - infections