CH.1 PPT Flashcards

You may prefer our related Brainscape-certified flashcards:
1
Q

what is a chromosome

A

discrete unit of the genome carrying many genes

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

what is contained within the human chromosomes

A

22 pairs of autosomes and a pair of sex chromosomes
- female = XX
- male = XY

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

what is a homologous chromosome

A

a pair of chromosomes with the same gene sequence, loci, chromosomal length, and centromere location.

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

non-homologous chromosomes

A

chromosomes that do not belong to the same pair.

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

what is an allele

A

One of several alternative forms of a gene occupying a given locus on a chromosome.

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

what is a structural gene

A

A gene that encodes any RNA or polypeptide product other than a regulator

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

what is a locus

A

The position on a chromosome at which the gene for a particular trait resides; it may be occupied by any one of the alleles for the gene.

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

what is genetic recombination

A

A process by which separate DNA molecules are joined into a single molecule, due to such processes as crossing over or transposition.

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

Trisomies indicate the the presence of 3 copies of a chromosome, the most common autosomal trisomies in humans are Down syndrome (trisonomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13). Of these three, Down syndrome is the least severe disorder why?

A

because chromosome 21 is the smallest chromosome and contains less genes

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

what provided the first support that DNA is the genetic material of bacteria.

A

transformation

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

what occurs during transformation

A

genetic properties can be transferred from one bacterial strain to another by extracting DNA from the first strain and adding it to the second strain

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

what is the transforming principle

A

DNA that is taken up by a bacterium and whose expression then changes the properties of the recipient cell.

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

what is transfection

A

In eukaryotic cells, the acquisition of new genetic markers by incorporation of added DNA.

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

the process of _____ in eukaryotic cells is analogous (having similar function) to bacterial transformation

A

transfection

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

what is a nucleoside (* slide)

A

consists of a purine or pyrimidine base linked to the 1′ carbon of a pentose sugar.

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

what are the purines and what type of ring is it (* slide)

A

Adenosine and Guanine
Double ring

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

what are the pyrimidines and what type of ring is it (* slide)

A

Thymine and Cytosine
Single ring

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

what type of sugar does DNA have (* slide)

A

deoxyribose sugar (2’–H)

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

what type of sugar does RNA have (* slide)

A

ribose sugar (2’–OH)

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

what is a nucleotide (* slide)

A

consists of a nucleoside linked to a phosphate group on either the 5′ or 3′ carbon of the (deoxy)ribose.

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

DNA contains what 4 bases (* slide)

A
  1. Adenine
  2. Guanine
  3. Cytosine
  4. Thymine
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

RNA contains what 4 bases (* slide)

A
  1. Adenine
  2. Guanine
  3. Cytosine
  4. URACIL
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

how are polynucleotide chains joined? (* slide)

A

by a phosphate group between the 3′ carbon of one sugar and the 5′ carbon of the next sugar.

one end of the chain has a free phosphate 5′ end and the other end of the chain has a free sugar 3′ end.

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

what is supercoiling

A

The coiling of a closed duplex DNA in space so that it crosses over its own axis.

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

DNA is a double helix consisting of how many polynucleotide chains and how do they run (* slide)

A

2 polynucleotide chains that run antiparallel

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

T/F: purines always face pyrimidines in the complementary base pairs

A

TRUE

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

what are the complementary base pairings for adenine, guanine, cytosine, and thymine (* slide)

A

T –> A
C –> G

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

what type of bond does the base pairing T –> A have (* slide)

A

double H bond

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

what type of bond does the base pairing C –> G have (* slide)

A

triple H bond (stronger because it relies on more energy to break this bond)

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

what does complementary strand mean (* slide)

A

Base pairs that match up in the pairing reactions in double helical nucleic acids (A with T in DNA or with U in RNA, and C with G

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

which of the following is a correct complementary base pair
a. T -> T
b. T -> A
c. T -> G
d. T -> C

A

b. T -> A

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

what is a central dogma

A

the rule that information cannot be transferred from protein to protein or protein to nucleic acid, but can be transferred between nucleic acids and from nucleic acid to protein.

33
Q

what does DNA undergo to copy itself

A

replication

34
Q

what does DNA undergo to turn into RNA

A

transcription

35
Q

what does RNA undergo to return back into DNA

A

reverse transcription

36
Q

what does RNA undergo to turn into proteins

A

translation

37
Q

DNA replication is semi-conservative meaning that?

A

each daughter duplex consists of one parental strand and one newly synthesized daughter strand

38
Q

what is DNA denaturation

A

involves the separation of the two strands due to breaking of hydrogen bonds between bases.

39
Q

what is DNA renaturation

A

The reassociation of denatured complementary single strands of a DNA double helix.

40
Q

what is in situ hybridization

A

Hybridization of a probe to intact tissue to locate its complementary strand.

41
Q

what does a point mutation do

A

changes a single base pair

42
Q

how are point mutations caused

A

by the chemical conversion of one base into another or by errors that occur during replication.

43
Q

what is a transition and what is an example (* slide)

A

interchange of pyrimidine (C↔T) or purine (A↔G) bases.
- EX: G-C → A-T (guanine turned into adenine and cytosine turned into thymine)

44
Q

what is a transversion and what is an example (* slide)

A

replaces a purine with a pyrimidine, or vice versa
- EX: A-T –> T-A or G-C –> C-G

45
Q

what is a nonsense mutation (* slide)

A

point mutation in a sequence of DNA that results in a premature stop codon.

46
Q

what is a missense mutation (* slide)

A

point mutation that changes the codon so that a different amino acid is encoded

47
Q

what is a silent mutation (* slide)

A

point mutation that does not affect the amino acid sequence.

48
Q

what is an insertion mutation (* slide)

A

addition of material from one chromosome to a nonhomologous chromosome.

49
Q

what is a deletion mutation (* slide)

A

removal of large chromosomal region

50
Q

what can a insertion and/or a deletion mutation cause

A

frameshift

51
Q

T/F: insertion and/or deletion mutations are typically more harmful than point mutations

A

TRUE

52
Q

what is a duplication mutation (* slide)

A

multiple copies of a chromosomal region

53
Q

what is an inversion mutation (* slide)

A

segment of a chromosome is reversed.

54
Q

what is a translocation mutation (* slide)

A

exchange of genetic material between nonhomologous chromosomes.

55
Q

what are a hallmark of many cancers (* slide)

A

Structural (chromosomal) abnormalities

56
Q

what is a reversion (* slide)

A

when forward mutations alter the function of a gene, and back mutations reverse their effects.

57
Q

can deletions be reverted

A

NO

58
Q

can insertions be reverted and if so how

A

YES they can revert by deletion of the inserted material

59
Q

what is second-site reversion (* slide)

A

A second mutation suppressing the effect of a first mutation within the same gene.

60
Q

what is suppression (* slide)

A

When a mutation in a second gene bypasses the effect of mutation in the first gene.

61
Q

what is the one gene : one polypeptide hypothesis

A

the hypothesis that a gene is responsible for the production of a single polypeptide.

62
Q

recessive mutations are due to what (* slide)

A

loss of function by the polypeptide product

63
Q

dominant mutations result from what (* slide)

A

gain of function

64
Q

testing whether a gene is essential requires what (* slide)

A

null mutation

65
Q

what is a null mutation (* slide)

A

one that completely eliminates function of a gene

66
Q

what is recombination the result of

A

crossing over that occurs at a chiasma during meiosis and involves two of the four chromatids.

67
Q

how does recombination occur

A

by a breakage and reunion that proceeds via an intermediate of heteroduplex DNA that depends on the complementarity of the two strands of DNA.

68
Q

what is a frameshift mutation

A

Mutations that insert or delete individual bases that cause a shift in the triplet sets after the site of mutation

69
Q

what is an open reading frame (ORF)

A

A sequence of DNA consisting of triplets that can be translated into amino acids starting with an initiation codon and ending with a termination codon.

70
Q

how is a typical gene expressed

A

by transcription into mRNA and then by translation of the mRNA into polypeptide

71
Q

what is RNA processing

A

Modifications to RNA transcripts of genes. This may include alterations to the 3′ and 5′ ends and the removal of introns by splicing.

72
Q

what is an exon

A

Any segment of an interrupted gene that is represented in the mature RNA product.

73
Q

what is a ribosome

A

A large assembly of RNA and proteins that synthesizes polypeptides under direction from an mRNA template

74
Q

what are ribosomal RNAs (rRNAs)

A

A major component of the ribosome.

75
Q

what is semi-conservative replication

A

DNA replication accomplished by separation of the strands of a parental duplex, each strand then acting as a template for synthesis of a complementary strand

76
Q

DNA can be used to introduce

A

new genetic traits into animal cells or whole animals.

77
Q

Insertion and/or deletion mutations do what?

A

add (insertion) or remove (deletion) one or more nucleotides into the genetic sequence and may cause a frameshift mutation

78
Q

what can an insertion and/or deletion mutation be the result of

A

result from movement of transposable elements

79
Q

diseases caused by nucleotide insertions and deletions include what

A

cystic fibrosis (3bp deletion) and beta thalassemia (point mutations, insertions or deletions)