Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

MCB1 Block 4 > Mutation & Disease > Flashcards

Mutation & Disease Flashcards

1
Q

Define mutation

A

permanent, heritable change in DNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Are mutations pathologic?

A

not necessarily

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is pathologic mutation

A

change in DNA taht has effect on the encoded protein or on gene expression that results in disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What are examples of mutations

A

base substitution
insertions
deletions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

mutations can be ____ or _____ line

A

somatic or germ line

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

will mutations be passed onto the next generation?

A

not unless they occur in the germline

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What should you always keep in mind regarding mutations and how it affects protein

A

what affect the change in DNA sequence will have on gene function - look at protein folding, transcription, will function be completely lost, etc.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

it’s not always loss of function, you can have what

A

gain of function of a protein

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

what is wild-type allele

A

most common allele for a gene within the population

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

what is a polymorphism

A

allele that is less common than the wt allele but occurs at frequency of less than 1%
they are still relatively “common”

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is a variant

A

change in DNA sequence that may or mayt notbe polymorphic and may or may not be pathogenic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

what is a rare varient

A

found at frequency of less than 1%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

How often do mutations occur per gene?

A

1.65 x 10^-7 per gene per cell division (1 in 10 billion)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

There is one replication error per how many divisions?

A

1.66 diploid cell divisions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

How many novel mutations are there per zygote?

A

138

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

How many novel mutationsin haploid sperm?

A

128

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

How many novel mutations in haploid egg?

A

10

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What is mutagenesis

A

the process by which mutations occur

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

what are spontaneous mutations?

A

occur in affected person for the first time
not from parent
occur continuously

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What are mutagens

A

they increase the rate of mutagenesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

describe dna repair

A

reduce mutation rate by 100 fold

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What is a synonymous substitution?

A

silent mutation, same amino acid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What is a non-synonymous mutation?

A

aa will change - can have missense, nonsense, splice site, promoter

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

what is a conservative mutation

A

aa change to another aa of similar type (so like glutamic acid to aspartic acid)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

what is non-conservative mutation?

A

aa changes to another type of aa so like glutamic acid to valine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

synonymous and non-synonymous are both what class of mutations

A

substitution

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

what do promoter mutations do

A

alter gene expression

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

what do splice site mutations do?

A

aberrant splicing - exon skipping or intron retention

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

describe the three types of deletions

A

multiple of 3 - codon
not multiple of 3
large deltion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

describe the affects of codon deletion

A

in-frame deletoin of one or more aa - may affect protein function or stability

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

what is a deletion, not a multiple of three clled?

A

frameshift

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

what are the results of a frameshift mutation?

A

likely to result in premature termination with loss of function or xpression

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

what are two types of large deletions

A

partial gene deletion

whole gene deltion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

what is the result of partial gene deletion

A

may result in premature terminatino with loss of function or expression

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

what is the restulf of whole gene deletion

A

loss of expression

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

what are the four types of insertion mutations

A

codon
not multiple of 3
large insertion
expansion of trinucleotide repeat

37
Q

what are the null mutations

A 
nonsense
frameshift deletion
frameshift insertion
partial gene or whole gene deletion
sometimes splice site
38
Q

what is the affect of codon insertion

A

in-frame insertion of one or more aa - may alter protein function or stability

39
Q

what is the affect of not multiple of 3 insertion

A

premature termination with loss of function or expression

40
Q

what is the affect of large insertion , partial gene duplication

A

may result in premature termination or loss of function,

41
Q

what are the two type of large insertions

A

partial gene duplication

whole gene duplication

42
Q

what is the affect of large insertion, whole gene duplication

A

may have affect due to increased gene dosage

43
Q

what type of mutation is expansion of trinucleotide repeat

A

dynamic mutation

44
Q

splicing always goes from splice donor to what

A

splice acceptor

45
Q

whathappens if splice acceptor is mutated

A

the intron stays in messenger RNA

46
Q

what is it called when the splice acceptor does not function

A

intron retention

47
Q

what will intron retention do to protein

A

make it biger

48
Q

what ahppens if splice donor looks for next splice acceptor when the one next to it doesn’t function

A

exon skipping

49
Q

what does exon skipping do to protein

A

deletions, make it shorter

50
Q

if exon skipping and intron retention are not multiples of 3 what happens

A

frameshift - a null mutation

51
Q

if splie acceptor or splice donor is mutated which are the two possibilities that could happen for each

A

exon skipping or intron retention

52
Q

what is activation of crytpic splice site

A

creating splice acceptor or splice donor

53
Q

activation of cryptic splice acceptor site in intron what does what to the gene

A

extended exon 2

54
Q

activation of cryptic splice donor in exon 2 does what to gene

A

shortened exon 2

55
Q

GT acts as what

A

splice donor

56
Q

AG acts as what

A

splice acceptor

57
Q

splice site mutations almost always do what to protein function

A

completely destroy

58
Q

what does Indels stand for

A

insertion/deletion mutations

59
Q

what is at danger to ahve slippage

A

repetitive sequenes

60
Q

what is at danger to have slippage

A

repetitive sequenes

61
Q

what does backward slippage cause

A

insertions

62
Q

forward slippage causes what

A

deletion

63
Q

an indel that is not a multiple of 3 will result in what

A

frameshift

64
Q

a dyanmic mutation due to expansion of trinucleotide repeat has what affect on protein?

A

altered gene expression or altered protein stability/function

65
Q

If there’s a (-) or a (+) for designation what does it mean

A

it’s a splice mutation

66
Q

What is incidence

A

the rate at which new cases (disease) occur

67
Q

what is prevalence

A

the proportion of the population affected (usually less than incidence)

68
Q

what is frequencey

A

usually synonymous with incidence

69
Q

almost all enzyme and transporter defects lead to what mode of inheritance

A

recessive

70
Q

almost all structural protein and transcription factor defects lead to what mode of inheritance

A

dominant

71
Q

majority of mutations caused by transcription factors are what

A

AD

72
Q

majority of modifier or protein function have what mode of inheritance?

A

1/2 AD 1/2 AR

73
Q

majority of receptors have what mode of inheritance?

A

1/2 AD 1/2 AR

74
Q

What is phenotypic heterogenity

A

variations in a trait, or in the cinical presentation of a disease

75
Q

what is genetic heterogenity

A

may cause phenotypic heterogenity

76
Q

what is allelic heterogeneity**

A

variety of mutations (alleles) occurring within the same gene (locus
Eg: some residual function alleles result in a mild phenotype, or partial phenotype

77
Q

what is locus heterogeinity**

A

different genes are involved
mutations w/in a variety of genes (loci) may cause the same disease/trait
multiple inheritance patterns may occur

78
Q

most diseases have what kind of heterogeneity

A

all 2 types: cliniical, allelic, locus

79
Q

What is the most likely affect on gene of a large deletion or insertion?

A

most likely to abolish function completely

80
Q

What is the most likely affect on a gene of duplication of whole gene?

A

increase product by 50% - normally no change phenotypically unless dosage-sensitive product

81
Q

What is the most likely affect on a gene with mutation: change in promoter or regulatory sequence

A

reduces or increases level of transcription

product has normal structure and function

82
Q

What is the most likely affect on a gene with mutation: change in intron

A

usually no affect. possibly change in splicing

83
Q

What is the most likely affect on a gene with mutation: change in 5’ or 3’ untranslated region of mRNA

A

usually no affect. possibly affect stability or translation efficienty of mRNA

84
Q

What is the most likely affect on a gene with mutation: splicing mutation

A

most likely complete loss of function

85
Q

What is the most likely affect on a gene with mutation: frameshfit mutation

A

most likely complete loss of function

86
Q

What is the most likely affect on gene with mutation: nonsense mutation

A

most likely complete loss of function

87
Q

What is the most likely affect on gene with mutation: missense mutation

A

Variable
Loss or gain of function
No affect

88
Q

What is the most likely affect on gene with mutation: synonymous substitution

A

most likely no affect

MCB1 Block 4 (17 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions