Molecular Genetics Lectures Flashcards

1
Q

Irreversbility

A

you can’t recreate progenitor generation

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2
Q

you can’t recreate progenitor generation

A

Irreversbility

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3
Q

Eukaryotes

A

animals – plants – fungi

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4
Q

animals – plants – fungi

A

Eukaryotes

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5
Q

DNA

A

Deoxyribo – Nucleic – Acid

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6
Q

RNA

A

Ribo – Nucleic – Acid

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7
Q

The backbone

A

triphosphate and a base (a sugar)

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8
Q

is made out of a triphosphate and a base

A

The backbone

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9
Q

Base pairs are bound by

A

by phosphoiester bonds

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10
Q

bound by phosphoiester bonds

A

Base pairs

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11
Q

polynucleotide

A

a long chain of nucleotides

= DNA

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12
Q

DNA chemically

A

polynucleotide

a long chain of nucleotides

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13
Q

Connections between the base pairs

A

are very weak

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14
Q

Connections between them are very weak

A

base pairs

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15
Q

First function of DNA

A

DNA replication = copying

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16
Q

Second function of DNA

A

Gene expression

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17
Q

5-3 strand

A

coding strand

sense strand

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18
Q

coding strand

A

5-3 strand

sense strand

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19
Q

sense strand

A

coding strand

5-3 strand

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20
Q

3-5 strand

A

template strand

anti-sense strand

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21
Q

starts transcription

A

RNA polymerase

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22
Q

End of transcription is signaled by

A

upstream signal AAUAAA

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23
Q

upstream signal AAUAAA

A

End of transcription is signaled by

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24
Q

Exon

A

Codes

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25
Q

Coding part

A

exon

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26
Q

Intron

A

Does not code

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27
Q

Non-coding part

A

Intron

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28
Q

Non-coding RNA

A
rRNA = ribosomal RNA 
tRNA = transfer RNA
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29
Q
rRNA = ribosomal RNA 
tRNA = transfer RNA
A

Non-coding RNA

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30
Q

tRNA

A

= transfer RNA

Transfers amino acids to the protein chain

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31
Q

Transfers amino acids to the protein chain

A

tRNA

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32
Q

possible codons n

A

64

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33
Q

amino acids n

A

20

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34
Q

stop codons n

A

three

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35
Q

initiation codon n

A

one

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36
Q

tRNA

A

= tRNA
Transcribes the mRNA into the polypeptide
tRNA has a cloverleaf structure

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37
Q

Transcribes the mRNA into the polypeptide

A

tRNA

has a cloverleaf structure

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38
Q

Four arms of tRNA

A

Acceptor arm, connects to the codon
D arm and TpsyC arm
Anticodon arm

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39
Q

Base wobble

A

Reduces the number of ribosomal RNAs needed

by enabling on transfer RNA to read different codons

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40
Q

Reduces the number of rRNAs needed

by enabling on tRNA to read different codons

A

Base wobble

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41
Q

Eukaryotic cells

A

almost always belong to a multicellular

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42
Q

almost always belong to a multicellular

A

Eukaryotic cells

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43
Q

Prokaryotes

A

don’t have a membrane that surrounds the nucleus

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44
Q

don’t have a membrane that surrounds the nucleus

A

Prokaryotes

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45
Q

yeasts, protophyta, protozoa

A

unicellular versions of fungi, plants and animals

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46
Q

unicellular versions of fungi, plants and animals

A

yeasts, protophyta, protozoa

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47
Q

Prokaryotes

A

made up of bacteria of archaea

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48
Q

made up of bacteria of archaea

A

Prokaryotes

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49
Q

Endosymbiosis

A

one cell within another

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50
Q

one cell within another

A

Endosymbiosis

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51
Q

Most somatic cells are diploid, except:

A

Some cells are nulliploid, have lost their DNA nucleus

Some cells are polyploid

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52
Q

Example: many blood cells

A

nulliploid

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53
Q

Examples are liver cells and cardiomyocytes

A

polyploid

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54
Q

Cell life phases

A

G1, S, G2 and M

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55
Q

M phase

A

seperation

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56
Q

seperation

A

M phase

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57
Q

Early S phase

Late S phase

A

One chromosome arm

Two chromosome arms

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58
Q

One chromosome arm

Two chromosome arms

A

Early S phase

Late S phase

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59
Q

Phases of mitosis

A
Interphase 
Prophase
Prometaphase
Anaphase 
Telophase
Cytokinesis
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60
Q

methods to create variation

A

Recombination

independent assortment

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61
Q

Two methods of amplifying DNA

A

Cell-based DNA cloning

Polymerase chain reaction

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62
Q

Bacterial cloning method

A

Living culture of bacteria
Transformation
Amplification
Isolation of recombinant DNA

63
Q

Cut open phosphodiester bonds

A

Restriction endonuclease

64
Q

Restriction endonuclease

A

Cut open phosphodiester bonds

65
Q

Host cells in cloning

A

yeast
bacteria -> plasmids
bacteriophage

66
Q

PCR ingredients

A

DNA
Polymerase
Two primers
All four nucleotides

67
Q

Steps of amplification

A
  1. Denaturing

2. Nucleotides attach to the single strand

68
Q

Advantages PCR

A

Straightforward and quick

Only tiny amount of DNA is needed

69
Q

Problems with PCR

A

The sequence of boundary regions must be known

70
Q

Genomic library

A

Cloned DNA fragments

Representing the entire genetic material of an organism

71
Q

Sanger sequencing:

Ingredients

A

The fragments
Primer
Polymerase
dNTP and ddNTP (needed to form a connection with the next nucleotide)

72
Q

Issues with Sanger sequencing

A

Error prone

cluttered

73
Q

More advanced method

A

Everything on one plate

74
Q

Iterative pyrosequencing

A

Based on emitted light

In Sanger sequencing

75
Q

Massively parallel sequencing of amplified DNA

A

-> Next generation

This method can only sequence small fragments

76
Q

Assembly

A

Based on overlapping fragments

Done by computer

77
Q

Based on overlapping fragments

Done by computer

A

Assembly

78
Q

Hybridization

A

Catch the target or test DNA / RNA fragment

by a complementary probe

79
Q

Catch the target or test DNA / RNA fragment by a complementary probe

A

Hybridization

80
Q

International HapMap project

A

Project to summarize all SNPs

81
Q

Project to summarize all SNPs

A

International HapMap project

82
Q

Centimorgan

A

Measurement unit

One map unit is equivalent to a 1% recombination frequency

83
Q

Physical maps

A

Based on actual distances between loci and nucleotides

84
Q

Based on actual distances between loci and nucleotides

A

Physical maps

85
Q

HP LC-MS

A
= high performance mass spectronomy
Molecule is destroyed
Are accelerated
Hit a detector
Time and intensity is measured
	Determines what molecule it is
86
Q

Chromatin

A

the whole complex of DNA and the associated proteins

87
Q

the whole complex of DNA and the associated proteins

A

Chromatin

88
Q

Euchromatin

A

unpacked / less packed

89
Q

unpacked / less packed

A

Euchromatin

90
Q

Centromere

A

essential for segregation during cell division

91
Q

essential for segregation during cell division

A

Centromere

92
Q

Telomere

A

Long area of tandem repeats

End part of chromosome

93
Q

Long area of tandem repeats

End part of chromosome

A

Telomere

94
Q

Mitochondria DNA

A

Have circular DNA
Similar size to bacteria
No introns
50% codes

95
Q

Mitochondrial replacement therapy

A

To treat women with mitochondrial diseases that want to get pregnant
Because the mitochondria are transmitted in 100% of cases

96
Q

Why do we still don’t have an exact number of human genes

A

Depends on the definition

e. g. three different genes or versions of one?

97
Q

Sequence homology searches

A

searches for homologous gene sequences

98
Q

searches for homologous gene sequences

A

Sequence homology searches

99
Q

Chimera

A

mouse whose cells are a mixture of mutant and wild type

100
Q

mouse whose cells are a mixture of mutant and wild type

A

Chimera

101
Q

Characteristics of Proteomics

A

Time dependent
Environment dependent
Post-translational modifications

102
Q

Metabolomics

A

Studies energy and lipid household of the body

103
Q

Studies energy and lipid household of the body

A

Metabolomics

104
Q

Types of variation between human genomes

A

SNPs
Tandem repeats
Mutations
Recombination

105
Q

Mutation types

A

Base substitution = point mutation

Deletions and insertions

106
Q

Frequency of mutations

A

Error occurs in one of every 50 million nucleotides

Correction mechanisms fix mistakes in DNA polymerase

107
Q

External sources of mutations

A

Radioactivity
(Sun) light
Anti-cancer drugs
- Aimed at damaging DNA in cancerous cells

108
Q

endogenous causes of mutation

A

Segregation
Recombination
Replication

109
Q

Segregation
Recombination
Replication

A

endogenous causes of mutation

110
Q

other causes of mutation

A

Spontaneous chemical events
Radiation
External chemicals

111
Q

Spontaneous chemical events
Radiation
External chemicals

A

other causes of mutation

112
Q

Five damage types

A
Strand breakage
Double strand breakage
Base deletion
Chemical modifications of bases
Base or string cross-linking
113
Q

Repairing DNA

A

Base-excision repair (BER)
Nucleotide-excision repair (NER)
Recombination-mediated

114
Q

Undetected Damage

A

Deamination: loss of an amino group

115
Q

Deamination

A

Undetected Damage

loss of an amino group

116
Q

SNPs

A

Single nucleotide polymorphisms
1 in every 300
Most have two alleles, some have three

117
Q

Interspersed or tandem repeats

A

Micro or mini

Comprise 50% of human genome

118
Q

Mini or micro satellites

A

Interspersed or tandem repeats

Comprise 50% of human genome

119
Q

Germ-line mutation

A

Mutation Between generations

120
Q

Mutation Between generations

A

Germ-line mutation

121
Q

High-speed, on demand variation

A

In reaction to disease, pathogens, anything invasive

= adaptive immune system

122
Q

adaptive immune system

A

High-speed, on demand variation
In reaction to disease, pathogens, anything invasive
= adaptive immune system

123
Q

Categories of genes

A

Coding genes, RNA genes, pseudo genes and repeats
Only 1-4% coding
45% RNA genes
45% repeats

124
Q

Gene silencing

A

only reading the DNA that is necessary

Achieved by microRNA

125
Q

Gene duplication mechanisms

A

Unequal crossover

Gene duplication by ancestral fusion of cells

126
Q

Unequal crossover

Gene duplication by ancestral fusion of cells

A

Gene duplication mechanisms

127
Q

Effect of gene duplication

A

families of genes

Have similar biochemical functions

128
Q

families of genes

Have similar biochemical functions

A

Effect of gene duplication

129
Q

Constitutive heterochromatine

A

Around centromere
Mostly long arrays of high-copy number tandem repeats
-> selected by evolution to be shut down

130
Q

Around centromere
Mostly long arrays of high-copy number tandem repeats
-> selected by evolution to be shut down

A

Constitutive heterochromatine

131
Q

Transposon

A

mobile DNA sequences that can migrate to different genome regions
45% of genome
“Virus-like DNA”

132
Q

Mobile DNA sequences
Can migrate to different genome regions
45% of genome
“Virus-like DNA”

A

Transposon

133
Q

Retrotransposon repeat

A

Work with copy and paste

134
Q

Work with copy and paste

A

Retrotransposon repeat

135
Q

DNA transposon

A

Cut and paste

136
Q

Work with Cut and paste

A

DNA transposon

137
Q

“Fossil” transposon

A

Not active anymore

138
Q

DNA replication

A

DNA polymerase producing two identical replicas of DNA from one original DNA molecule

139
Q

Different stages of the cell cycle

A

M (Mitosis/Meiosis)

Interphase (G1, Early S = DNA replication, Late S, G2)

140
Q

Stages of mitosis

A
Prophase
Prometaphase
Metaphase
Anaphase
Telophase
141
Q

minisatellite

A

Repetitive DNA
Certain DNA motifs
(ranging in length from 10–60 base pairs)
Repeated 5-50 times.

142
Q

Repetitive DNA
Certain DNA motifs
(ranging in length from 10–60 base pairs)
Repeated 5-50 times.

A

minisatellite

143
Q

Repetitive DNA
Certain DNA motifs
(ranging in length from 1 to 6 or more base pairs)
Repeated, typically 5–50 times.

A

microsatellite

144
Q

microsatellite

A

Repetitive DNA
Certain DNA motifs
(ranging in length from 1 to 6 or more base pairs)
Repeated, typically 5–50 times.

145
Q

coactivator

A

Transcriptional coregulator
Binds to a transcription factor
Increases the rate of transcription

146
Q

Type of transcriptional coregulator
Binds to a transcription factor
Increases the rate of transcription

A

coactivator

147
Q

oligonucleotide

A

a polynucleotide whose molecules contain a relatively small number of nucleotides.

148
Q

a polynucleotide whose molecules contain a relatively small number of nucleotides.

A

oligonucleotide

149
Q

a process of cell duplication, in which one cell divides into two genetically identical daughter cells.

A

mitosis

150
Q

mitosis

A

a process of cell duplication, in which one cell divides into two genetically identical daughter cells.

151
Q

a division of a germ cell involving two fissions of the nucleus and giving rise to four gametes

A

meiosis

152
Q

meiosis

A

a division of a germ cell involving two fissions of the nucleus and giving rise to four gametes

153
Q

a covalentbondlinking two amino acids

A

peptide bond

154
Q

peptide bond

A

a covalentbondlinking two amino acids