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MolBio > dna damage and mutation > Flashcards

dna damage and mutation Flashcards

1
Q

one or more two versions of a gene

A

allele

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2
Q

region of dna that encodes function

A

gene

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3
Q

specific physical location of a gene or other DNA

A

locus

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4
Q

difference in DNA sequence among individuals, groups, or populations

A

genetic polymorphisms

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5
Q

most common type of genetic polymorphisms

A

Variation at a single base pair

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6
Q

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

A

viruses or radiation

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7
Q

sources of genetic polymorphism

A
  • single nucleotide polymorphism
  • sequence repeats
  • insertion
  • deletion
  • recombination
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8
Q

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

A

genetic mutation

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9
Q

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

A

mutation

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10
Q

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

A

polymorphisms

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11
Q

enumerate the types of DNA polymorphism

A
  • tandem repeats
  • short tandem repeats
  • single nucleotide polymorphism
  • copy number polymorphism
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12
Q

enumerate the types of mutation

A
  • chromosomal mutation
  • gene mutation
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13
Q

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

A

tandem repeats

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14
Q

examples of standard repeats

A
  • simple sequence repeats
  • microsatellites
  • minisatellites
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15
Q

variable tandem repeats are used in?

A

DNA fingerprinting

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16
Q

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

A

short tandem repeats

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17
Q

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

A

STR short tandem repeats

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18
Q

a polymorphism present at a particular nucleotide side

A

single nucleotide polymorphism

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19
Q

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

A

substitution

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20
Q

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

A

transition

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21
Q

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

Single Nucleotide Polymorphism

A

single base insertion or deletion variant

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22
Q

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

A

copy-number polymorphisms

23
Q

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

A

germline mutation

24
Q

somatic mutation occur in __ and are not passed

A

body cells

25
Q

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

A

chromosomal mutations

26
Q

mutation can be caused by?

A
  • cell division
  • exposure to ionizing radiation
  • exposure to mutagents
  • infections
  • virus
27
Q

chromosomal mutations can be?

A
  • deletion
  • insertion
  • duplication
  • translocation
28
Q

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

A

deletion

29
Q

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

A

insertion

30
Q

when a gene sequence is repeated

A

duplication

31
Q

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

A

translocation

32
Q

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

A

non-disjunction

33
Q

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

what chromosome is affected?

A

down syndrome

three 21st chromosome

34
Q

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

A

turner syndrome

X chromosome

35
Q

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

A

turner syndrome

36
Q

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

A

kleinfelter syndrome

XXY chromosome

37
Q

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

A

kleinfelter syndrome

XXY chromsome

38
Q

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

A

gene mutations

39
Q

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

A

point mutation

40
Q

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

A

silent mutation

41
Q

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

A

missense mutation

42
Q

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

A

conservative missense mutation

43
Q

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

A

non-conservative missense mutation

44
Q

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

A

nonsense mutation

45
Q

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

A

read-through mutation

46
Q

Inserting or deleting one or more nucleotides

A

frameshift mutation

47
Q

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

A

frameshift mutation

48
Q

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

A

substitution mutation

49
Q

addition of one or more nucleotide base pairs into DNA sequence

A

insertion mutation

50
Q

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

A

tautomeric shifts

51
Q

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

A

tautomeric shifts

52
Q

what is the difference between mutation and polymorphism?

A

the frequency of occurrence

mutation: affects one person
polymorphism: affects a particular population

53
Q

mutation results from DNA copying mistake during ___

A
  • cell division
  • exposure to ionizing radiation
  • exposure to mutagens
  • infections

MolBio (8 decks)

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