Brainscape's Knowledge GenomeTM

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


See full index

BIOL 207 > Lecture 5 > Flashcards

Lecture 5 Flashcards

1
Q

Point Mutations

A

Alteration of single base pair of DNA

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

Types of point mutations

A

Substitutions

Insertion or Deletion (INDEL)

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

Types of substitution mutations

A

Transition

Transversion

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

Transition

A

Changing a purine to a purine

or pyramidine to pyramidine

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

Transversion

A

Changing a purine to a pyrimidine

Or a pyrimidine to a purine

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

Classification for substitutions in protein coding DNA

A

Synonymous
Conseravtive missense
Nonconservative missense
Nonsense

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

Synonymous mutation

A

affects a codon in a position that does not alter the encoded amino acid

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

Missense mutation (conservative)

A

affects a codon so that a different amino acid is incorporated, but the “new” amino acid has similar properties as the “old” one

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

Missense mutation (nonconservative)

A

affects a codon so that a different amino acid is incorporated, but the “new” amino acid has different properties than the “old” one

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

Nonsense mutation (aka stop mutation)

A

changes a codon into a stop codon, causes premature termination (truncation) of the protein

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

Classification for INDELS in protein coding DNA

A

Frameshift mutation

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

Frameshift mutation

A

Since the reading frame is read in units of three nucleotides, a single base pair insertion or deletion within the reading frame will alter all codons from this point on until a stop codon is encountered.

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

Classification for INDELS and substitutions anywhere in the gene

A

Silent mutation

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

Silent mutation

A

mutations have no effect on the function of encoded protein/RNA, regardless of which part of the gene is hit.

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

Codon

A

Nucleotide triplets

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

T/F the genetic code is based on nucleotide quartets

A

False

Nucleotide triplets

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

Degenerate code

A

64 codons encode 20 amino acids and three termination signals

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

Wobble

A

Third position of codon is variable for 18 amino acids
In the third position of the codon, which would be less dramatic: transition or transversion?
transition

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

T/F point mutations in non coding dna are not harmful

A

False

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

Give examples of human disorders caused by point mutations

A

Cystic fibrosis

Preaxial polydactyly

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

SNPs

A

single nucleotide variations in the genome, which originated from point mutations and became “fixed” in the population

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

common” SNPs

A

occur > 5% in a population

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

Rare “SNPs”

A

< 5% in a population

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

Somatic mutations

A

Mutations in body cells

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

Genetic mosaic

A

contains somatic regions that are genotypically different from each other

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

Germline mutations

A

Occurs in gametes
Individual may or may not be affected
Offspring may or may not be affected

27
Q

Pigmentation

A

Somatic mutation in embryonic cell gives rise to affected patch of tissue
Size of affected area depends on how early in development the mutation occured

28
Q

Cancer

A

Mutations occur in adult cells

Cancers may be caused by somatic and/or germline mutations

29
Q

chromosome mutations

A

changes in a region of DNA that harbors multiple genes

30
Q

What are the three types of chromosome mutations

A

Gain
Lose
Relocate

31
Q

Relocation chromosome mutations

A

Translocation

Inversion

32
Q

Translocation chromosome mutations

A

A peice of gene from another chomosome replaces a gene

33
Q

Inversion chromosome mutations

A

Two genes on the same chomosome switch places

34
Q

Loss chromosome mutations

A

Deletion

Missing chomosome

35
Q

Gain chromosome mutations

A

Duplication

Extra chomosome

36
Q

Duplication chromosome mutations

A

A gene is duplicated

37
Q

Ploidy

A

Number of chromosome sets in the cell. Equivalent to the “n” value

38
Q

Polyploidy

A

Organisms with more than two chromosome sets (n>=3)

39
Q

Euploidy

A

Refers to individual with any number of complete chromosome sets

40
Q

Aneuploidy

A

Involves a change (gain or loss) of a whole single chromosome (of the set) and usually produces physical defects (despite all genes being normal). Example: trisomic (3) and monosomic (1) chromosomes

41
Q

Monoploidy

A

Refers to a haploid individual member of a normally diploid species (e.g. male bees and wasps)

42
Q

Allopolyploidy

A

A hybrid plant species that is derived from two or more species, containing two or more copies of each original genome (e.g. Brassica)

43
Q

Autopolyploidy

A

Extra sets of chromosomes derived from the same species, caused by accidents in mitosis or meiosis

44
Q

T/F rutabega is a hybrid

A

True

Hybrid of turnip and something else

45
Q

What is the ploidy of seedless plants?

A

Triploid

46
Q

T/F watermelon and bananas are seedless and triploid

A

True

47
Q

T/F odd numbered ploidy is associated with sterility

A

True

48
Q

How are sterile plants propagated

A

cuttings can be grown asexually

Tetraploid plant can be crossed to diploid plant to create triploid seeds

49
Q

What is the problem with the cavendish banana?

A

It’s triploid and sterile, must be propogated asexually
Fungi can infect banana trees
These fungi;’s resistence is increasing
Cavendish bananas face threat of eradication

50
Q

autosomes

A

Non sex chromosomes

51
Q

Nondisjunction

A

Nondisjunction of one chromosome pair in meiosis results in gametes having either gained or lost a chromosome

52
Q

T/F nondisjunction always happens at the second division of meiosis

A

False

Can occur at either one

53
Q

What is the n value of the 4 daughter cells if nondisjunction occurs at the first div

A

n + 1
n + 1
n - 1
n - 1

54
Q

What is the n value of the 4 daughter cells if nondisjunction occurs at the second div

A

n + 1
n - 1
n
n

55
Q

What type of ploidy is downs syndrome

A

Aneuploidy

56
Q

T/F most aneuploidies are fatal

A

True

57
Q

karyogram

A

A visual depiction of all (metaphase) chromosomes in an organism

58
Q

What is the most common form of downs syndrome

A

Trisomy 21

59
Q

Fertility of people with downs syndrome

A

Females may be fertile males usually not

60
Q

Turner Syndrome

A 
XO
Monosomy of X-chromosome 
Sterile females
short stature, ovaries don't develop, webbed neck 
normal IQ
61
Q

Klinefelter Syndrome

A

XXY
variable male genital development (hypogonadism)
May develop breasts after puberty
most/some show intellectual disability

62
Q

Extra Y-chromosome

A

XYY
Individuals show marginal differences from normality.
not “criminal behavior”
Male, taller (+3”), but normal, fertile (gametes are either X or Y, never XY or YY)

63
Q

Triple-X

A

XXX
can pass for normal, need karyotype to tell
most are fertile and produce normal children
increased stature

64
Q

karyogram shorthand format

A

pos 1: tot. num. of chroms.
pos 2: sex chroms
pos 3: abnormalities

BIOL 207 (6 decks)

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