Molecular Genetics Lectures Flashcards
(154 cards)
1
Q
Irreversbility
A
you can’t recreate progenitor generation
2
Q
you can’t recreate progenitor generation
A
Irreversbility
3
Q
Eukaryotes
A
animals – plants – fungi
4
Q
animals – plants – fungi
A
Eukaryotes
5
Q
DNA
A
Deoxyribo – Nucleic – Acid
6
Q
RNA
A
Ribo – Nucleic – Acid
7
Q
The backbone
A
triphosphate and a base (a sugar)
8
Q
is made out of a triphosphate and a base
A
The backbone
9
Q
Base pairs are bound by
A
by phosphoiester bonds
10
Q
bound by phosphoiester bonds
A
Base pairs
11
Q
polynucleotide
A
a long chain of nucleotides
= DNA
12
Q
DNA chemically
A
polynucleotide
a long chain of nucleotides
13
Q
Connections between the base pairs
A
are very weak
14
Q
Connections between them are very weak
A
base pairs
15
Q
First function of DNA
A
DNA replication = copying
16
Q
Second function of DNA
A
Gene expression
17
Q
5-3 strand
A
coding strand
sense strand
18
Q
coding strand
A
5-3 strand
sense strand
19
Q
sense strand
A
coding strand
5-3 strand
20
Q
3-5 strand
A
template strand
anti-sense strand
21
Q
starts transcription
A
RNA polymerase
22
Q
End of transcription is signaled by
A
upstream signal AAUAAA
23
Q
upstream signal AAUAAA
A
End of transcription is signaled by
24
Q
Exon
A
Codes
25
Coding part
exon
26
Intron
Does not code
27
Non-coding part
Intron
28
Non-coding RNA
```
rRNA = ribosomal RNA
tRNA = transfer RNA
```
29
```
rRNA = ribosomal RNA
tRNA = transfer RNA
```
Non-coding RNA
30
tRNA
= transfer RNA
| Transfers amino acids to the protein chain
31
Transfers amino acids to the protein chain
tRNA
32
possible codons n
64
33
amino acids n
20
34
stop codons n
three
35
initiation codon n
one
36
tRNA
= tRNA
Transcribes the mRNA into the polypeptide
tRNA has a cloverleaf structure
37
Transcribes the mRNA into the polypeptide
tRNA
| has a cloverleaf structure
38
Four arms of tRNA
Acceptor arm, connects to the codon
D arm and TpsyC arm
Anticodon arm
39
Base wobble
Reduces the number of ribosomal RNAs needed
| by enabling on transfer RNA to read different codons
40
Reduces the number of rRNAs needed
| by enabling on tRNA to read different codons
Base wobble
41
Eukaryotic cells
almost always belong to a multicellular
42
almost always belong to a multicellular
Eukaryotic cells
43
Prokaryotes
don’t have a membrane that surrounds the nucleus
44
don’t have a membrane that surrounds the nucleus
Prokaryotes
45
yeasts, protophyta, protozoa
unicellular versions of fungi, plants and animals
46
unicellular versions of fungi, plants and animals
yeasts, protophyta, protozoa
47
Prokaryotes
made up of bacteria of archaea
48
made up of bacteria of archaea
Prokaryotes
49
Endosymbiosis
one cell within another
50
one cell within another
Endosymbiosis
51
Most somatic cells are diploid, except:
Some cells are nulliploid, have lost their DNA nucleus
| Some cells are polyploid
52
Example: many blood cells
nulliploid
53
Examples are liver cells and cardiomyocytes
polyploid
54
Cell life phases
G1, S, G2 and M
55
M phase
seperation
56
seperation
M phase
57
Early S phase
| Late S phase
One chromosome arm
| Two chromosome arms
58
One chromosome arm
| Two chromosome arms
Early S phase
| Late S phase
59
Phases of mitosis
```
Interphase
Prophase
Prometaphase
Anaphase
Telophase
Cytokinesis
```
60
methods to create variation
Recombination
| independent assortment
61
Two methods of amplifying DNA
Cell-based DNA cloning
| Polymerase chain reaction
62
Bacterial cloning method
Living culture of bacteria
Transformation
Amplification
Isolation of recombinant DNA
63
Cut open phosphodiester bonds
Restriction endonuclease
64
Restriction endonuclease
Cut open phosphodiester bonds
65
Host cells in cloning
yeast
bacteria -> plasmids
bacteriophage
66
PCR ingredients
DNA
Polymerase
Two primers
All four nucleotides
67
Steps of amplification
1. Denaturing
| 2. Nucleotides attach to the single strand
68
Advantages PCR
Straightforward and quick
| Only tiny amount of DNA is needed
69
Problems with PCR
The sequence of boundary regions must be known
70
Genomic library
Cloned DNA fragments
| Representing the entire genetic material of an organism
71
Sanger sequencing:
| Ingredients
The fragments
Primer
Polymerase
dNTP and ddNTP (needed to form a connection with the next nucleotide)
72
Issues with Sanger sequencing
Error prone
| cluttered
73
More advanced method
Everything on one plate
74
Iterative pyrosequencing
Based on emitted light
| In Sanger sequencing
75
Massively parallel sequencing of amplified DNA
-> Next generation
This method can only sequence small fragments
76
Assembly
Based on overlapping fragments
| Done by computer
77
Based on overlapping fragments
| Done by computer
Assembly
78
Hybridization
Catch the target or test DNA / RNA fragment
| by a complementary probe
79
Catch the target or test DNA / RNA fragment by a complementary probe
Hybridization
80
International HapMap project
Project to summarize all SNPs
81
Project to summarize all SNPs
International HapMap project
82
Centimorgan
Measurement unit
| One map unit is equivalent to a 1% recombination frequency
83
Physical maps
Based on actual distances between loci and nucleotides
84
Based on actual distances between loci and nucleotides
Physical maps
85
HP LC-MS
```
= high performance mass spectronomy
Molecule is destroyed
Are accelerated
Hit a detector
Time and intensity is measured
Determines what molecule it is
```
86
Chromatin
the whole complex of DNA and the associated proteins
87
the whole complex of DNA and the associated proteins
Chromatin
88
Euchromatin
unpacked / less packed
89
unpacked / less packed
Euchromatin
90
Centromere
essential for segregation during cell division
91
essential for segregation during cell division
Centromere
92
Telomere
Long area of tandem repeats
| End part of chromosome
93
Long area of tandem repeats
| End part of chromosome
Telomere
94
Mitochondria DNA
Have circular DNA
Similar size to bacteria
No introns
50% codes
95
Mitochondrial replacement therapy
To treat women with mitochondrial diseases that want to get pregnant
Because the mitochondria are transmitted in 100% of cases
96
Why do we still don’t have an exact number of human genes
Depends on the definition
| e. g. three different genes or versions of one?
97
Sequence homology searches
searches for homologous gene sequences
98
searches for homologous gene sequences
Sequence homology searches
99
Chimera
mouse whose cells are a mixture of mutant and wild type
100
mouse whose cells are a mixture of mutant and wild type
Chimera
101
Characteristics of Proteomics
Time dependent
Environment dependent
Post-translational modifications
102
Metabolomics
Studies energy and lipid household of the body
103
Studies energy and lipid household of the body
Metabolomics
104
Types of variation between human genomes
SNPs
Tandem repeats
Mutations
Recombination
105
Mutation types
Base substitution = point mutation
| Deletions and insertions
106
Frequency of mutations
Error occurs in one of every 50 million nucleotides
| Correction mechanisms fix mistakes in DNA polymerase
107
External sources of mutations
Radioactivity
(Sun) light
Anti-cancer drugs
- Aimed at damaging DNA in cancerous cells
108
endogenous causes of mutation
Segregation
Recombination
Replication
109
Segregation
Recombination
Replication
endogenous causes of mutation
110
other causes of mutation
Spontaneous chemical events
Radiation
External chemicals
111
Spontaneous chemical events
Radiation
External chemicals
other causes of mutation
112
Five damage types
```
Strand breakage
Double strand breakage
Base deletion
Chemical modifications of bases
Base or string cross-linking
```
113
Repairing DNA
Base-excision repair (BER)
Nucleotide-excision repair (NER)
Recombination-mediated
114
Undetected Damage
Deamination: loss of an amino group
115
Deamination
Undetected Damage
| loss of an amino group
116
SNPs
Single nucleotide polymorphisms
1 in every 300
Most have two alleles, some have three
117
Interspersed or tandem repeats
Micro or mini
| Comprise 50% of human genome
118
Mini or micro satellites
Interspersed or tandem repeats
| Comprise 50% of human genome
119
Germ-line mutation
Mutation Between generations
120
Mutation Between generations
Germ-line mutation
121
High-speed, on demand variation
In reaction to disease, pathogens, anything invasive
| = adaptive immune system
122
adaptive immune system
High-speed, on demand variation
In reaction to disease, pathogens, anything invasive
= adaptive immune system
123
Categories of genes
Coding genes, RNA genes, pseudo genes and repeats
Only 1-4% coding
45% RNA genes
45% repeats
124
Gene silencing
only reading the DNA that is necessary
| Achieved by microRNA
125
Gene duplication mechanisms
Unequal crossover
| Gene duplication by ancestral fusion of cells
126
Unequal crossover
| Gene duplication by ancestral fusion of cells
Gene duplication mechanisms
127
Effect of gene duplication
families of genes
| Have similar biochemical functions
128
families of genes
| Have similar biochemical functions
Effect of gene duplication
129
Constitutive heterochromatine
Around centromere
Mostly long arrays of high-copy number tandem repeats
-> selected by evolution to be shut down
130
Around centromere
Mostly long arrays of high-copy number tandem repeats
-> selected by evolution to be shut down
Constitutive heterochromatine
131
Transposon
mobile DNA sequences that can migrate to different genome regions
45% of genome
“Virus-like DNA”
132
Mobile DNA sequences
Can migrate to different genome regions
45% of genome
“Virus-like DNA”
Transposon
133
Retrotransposon repeat
Work with copy and paste
134
Work with copy and paste
Retrotransposon repeat
135
DNA transposon
Cut and paste
136
Work with Cut and paste
DNA transposon
137
“Fossil” transposon
Not active anymore
138
DNA replication
DNA polymerase producing two identical replicas of DNA from one original DNA molecule
139
Different stages of the cell cycle
M (Mitosis/Meiosis)
| Interphase (G1, Early S = DNA replication, Late S, G2)
140
Stages of mitosis
```
Prophase
Prometaphase
Metaphase
Anaphase
Telophase
```
141
minisatellite
Repetitive DNA
Certain DNA motifs
(ranging in length from 10–60 base pairs)
Repeated 5-50 times.
142
Repetitive DNA
Certain DNA motifs
(ranging in length from 10–60 base pairs)
Repeated 5-50 times.
minisatellite
143
Repetitive DNA
Certain DNA motifs
(ranging in length from 1 to 6 or more base pairs)
Repeated, typically 5–50 times.
microsatellite
144
microsatellite
Repetitive DNA
Certain DNA motifs
(ranging in length from 1 to 6 or more base pairs)
Repeated, typically 5–50 times.
145
coactivator
Transcriptional coregulator
Binds to a transcription factor
Increases the rate of transcription
146
Type of transcriptional coregulator
Binds to a transcription factor
Increases the rate of transcription
coactivator
147
oligonucleotide
a polynucleotide whose molecules contain a relatively small number of nucleotides.
148
a polynucleotide whose molecules contain a relatively small number of nucleotides.
oligonucleotide
149
a process of cell duplication, in which one cell divides into two genetically identical daughter cells.
mitosis
150
mitosis
a process of cell duplication, in which one cell divides into two genetically identical daughter cells.
151
a division of a germ cell involving two fissions of the nucleus and giving rise to four gametes
meiosis
152
meiosis
a division of a germ cell involving two fissions of the nucleus and giving rise to four gametes
153
a covalent bond linking two amino acids
peptide bond
154
peptide bond
a covalent bond linking two amino acids
