Genetics Flashcards

(93 cards)

1
Q

Mendal’s Laws

A
  1. Law of dominance and uniformity
    - Some alleles are dominant, and others recessive
    - If two homozygotes with different alleles breed, then the offspring will all be heterozygotes with the phenotype of the dominant allele.
  2. Law of segregation
    - During gamete formation, the alleles of each genes separate into separate gametes
  3. Law of independent assortment
    - Alleles are passed on separately of each other
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

P

A

Parental generation

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

F1

A

First filial generation

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

F2

A

Second filial generation

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

Incomplete dominance

A

The heterozygous offspring shows a phenotype distinct from the two possible homozygous phenotypes

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

Codominance

A

Where both alleles of a heterozygote are expressed and thus traits are neither dominant nor recessive

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

Telomere sequence

A

TTA GGG
Tell them all, Genes gotta go

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

Telomere function

A
  1. Protect exonucleases from degrading genes
  2. Prevent chromosome fusion
  3. Enhance chromosome stability
  4. Protect the end of chromosome from being recognized as DNA breaks, which would otherwise trigger mechanisms or degradation.
  5. Solution to the end of replication problem: DNA polymerase enzyme needs a 3’ end to add nucleotides; this is not available at the end of the chromosome of the lagging strand
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Chromosomes get _____ in size as the number increases.

A

Smaller

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

How to obtain the karyotype?

A
  1. Take the sample (Blood, amniotic fluid, and tissue)
  2. Metaphase arrest (Halt the cell cycle at metaphase)
  3. Chromosome staining and analysis
  4. Karyotype interpretation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Denote a healthy female’s karyotype

A

46, XX: 22 pairs of autosomes and 2X chromosomes

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

Denote a healthy male’s karyotype

A

46, XY: 22 pair of autosomes and 1X and 1Y chromosome

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

Denote a female with Down syndrome

A

47, XX +21

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

Denote a male with Down syndrome

A

47, XY +21

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

Denote a female with monosomy on chromosome number 5

A

45, XX -5

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

How are chromosomes ordered in a karyotype?

A
  1. Size
  2. Location of centromere
  3. Homologous pairs
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

How do we denote a human karyotype?

A

Number of chromosomes, (comma) sex chromosomes, and plus or minus sign to signify any anomaly

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

Ploidy

A

Number of set(s) of chromosomes
For example,
Haploid (1n) 23 chromosomes
Diploid (2 set of 23 chromosomes = 46 chromosomes)
Polyploid (3n, 4n)
Aneuploidy (2n + 1, 2n -1, etc)
Anucleate (No chromosome)

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

Polyploidy

A

Containing more than two sets of chromosomes
- triploidy
- tetraploidy

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

Aneuploidy

A

Abnormal number of chromosomes
- trisomy (2n+1)
- monosomy (2n-1)
- tetrasomy (2n+2)
- nullisomy (2n-2)

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

Types of mutation

A
  1. Gene mutations
  2. Chromosomal mutation
  3. Genomic mutation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Gene mutation types.

A
  1. Point mutation
    - substitution
    - inversion
  2. Frameshift mutation
    - insertion
    - deletion
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Chromosomal mutation

A
  • Deletion
  • Duplication
  • Inversion
  • Translocation
  • Insertion
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Genomic mutation

A
  • Polyploidy
  • Aneuploidy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Where can mutation occur?
- nucleus, mitochondria, chloroplast, nucleoid, plasmids, and viral genome (Basically wherever there is a genetic material)
26
Causes of mutations
- Spontaneous 1. DNA replication errors 2. DNA repair errors 3. Mitosis/ meiosis errors 4. Spontaneous chemical changes - Induced causes 1. chemicals 2. radiation 3. Pathogens
27
Types of genetic mutations according to the effect
1. Silent mutation 2. Missense mutation 3. Nonsense mutation 4. Stop codon suppression
28
What is chromosomal inversion mutation and how can it affect the phenotype?
Macro region of chromosome breaks and reattaches to the same chromosome in a reverse orientation. - disrupt gene regulation and Gene order - can affect chromosome pairing during meiosis
29
Chromosomal translocation mutation types, descriptions of each type, and how it affects the phenotype
1. Reciprocal translocation - exchange of macro segments between two non-homologous chromosomes 2. Robertsonian translocation Entire chromosome has attached to another chromosome
30
Insertion
Portion of one chromosome has been taken from its normal place and inserted into another chromosome
31
What is Mosaicism ?
When certain cells have a mutation in their genes but others do not, a single organism has two or more genetically distinct cell lines. This means that sample from one tissue might not detect the mutation.
32
True or false: if a human cell does not divide by mitosis, it must not be a somatic cell.
False: the statement is not always true because there are some cells such as neurons, erythrocytes, skeletal muscle cells, and cardiac muscle cells that do not undergo mitosis or cell division.
33
A group of genes in prokaryotic cells that performs gene regulation, and contains mutiple structural genes that code for mutiple polypeptide chains.
Operon
34
35
Compartments of operon
1. Promoter 2. Repressor - inducer - co-repressor 3. Operator 4. Structural genes
36
Lac Operon
1. There are three structural genes that produce proteins to digest lactose. 2. The repressor is typically bound to the operator when there is no lactose in the environment. 3. When there is lactose in the environment, the allolactose acts as an inducer binds to the repressor, dissociating it from the operator region. 4. When it happens, the polymerase binds to the promoter and starts transcribing the structural genes.
37
Three structural genes of lac Operon and proteins that they produce.
LacZ: Beta-galactosidase (breaks down lactose into glucose and galactose) LacY: Lactose permease (transport lactose into cell) LacA: Transacetylase (metabolism of other sugars)
38
The operator is said to be turned (blank) when the repressor is bound.
Off
39
(Blank) produces repressor that binds to the operator region.
Regulatory gene from upstream of the operon
40
_____ is the inducer for lac Operon.
Allolactose
41
Allolactose acts as _____ in lac Operon.
Inducer
42
Tryptophan acts as _____ in Trp operon
Co-repressor
43
Trp-operon process
1. Normally, when there is no tryptophan in the environment, the repressor is not bound to the operator, and the structural genes are being transcribed. 2. When there is tryptophan in the environment, it acts as a co-repressor, and the repressor binds to the operator, stopping the transcription process. 3. The structural genes consist of five different genes.
44
Tryptophan structural genes
TrpE TrpD TrpC TrpB TrpA
45
What is the name for gene regulation to switch genes on and off?
Epigenetic modification
46
Types of epigenetic modification
1. Histone modification - acetylation (generally loosen up the chromatin and increases gene expression) - methylation (either activate or repress gene expression, which depends on the specific methylation site or the number of methyl group added) - phosphorylation, ubiquitylation 2. DNA modification - methylation (generally reduces gene expression, and silences transcription) 3. Non-coding RNAs (ncRNAs) - translational repression - mRNA degradation, and suppression - Promote genomic integrity and stability - Recruiting chromatin-remodeling complexes to specific genes - Interacts with chromatin-modifying enzymes and guides them to specific DNA regions, influencing, whether a region of DNA is condensed or relaxed and affecting gene transcription.
47
Non-coding RNAs
1. Regulatory ncRNA Micro RNA Long non-coding RNA Piwi interacting RNA Small interfering RNA Small nuclear RNA Small nucleolar RNA 2. Housekeeping ncRNA tRNA rRNA
48
Eukaryotic gene structure
1. Enhancer/ Silencer 2. Promoter - proximal - core 3. 5’ untranslated region 4. Open reading frame - introns - extrons 5. 3’ untranslated region -terminator 6. Enhancer/ Silencer
49
In eukaryotes, (blank) binds to the (blank) region for gene regulation
1. Activators, enhancer region 2. Repressor, silencer region
50
Where can enhancers and silencers locate at in eukaryotes?
Upstream, downstream or even within the gene
51
Transcription factors that bind to the enhancer in eukaryotes
Activators
52
Transcription factors that bind to the silencer in eukaryotes
Repressor
53
Types of transcription factors in eukaryotes
1. General transcription factors 2. Activators 3. Repressor
54
What do general transcription factors do in eukaryotes?
General transcription factors together with DNA polymerase enzymes bind to the promoter region and initiate transcription.
55
56
Where is the promoter at, what are the different regions of the promoter, and what are their functions?
Promoter region is at the immediate upstream of the coding region. There are two different regions of the promoter which are the core promoter and the proximal promoter. The core promoter region is where the DNA polymerase and general transcription factors bind to. The proximal promoter region assist regulate how often transcription starts by interacting with additional transcription factors.
57
Does five prime untranslated region gets transcribed into mRNA?
Yes
58
Starting from which part, does the DNA get transcribed?
At the end of the promoter region, and at the start of five prime untranslated region.
59
What is the component of a eukaryotic gene that actually encodes a protein called?
Open Reading frame (from start codon to stop codon)
60
Does the entirety of the open reading frame get translated into protein?
No, the open reading frame contains introns, which are spliced out during the post transcriptional process.
61
Where is the terminator in eukaryotic gene sequence?
Downstream of the three prime untranslated region.
62
The compartments of the heterogeneous RNA
Five prime untranslated region Open Reading frame Three prime untranslated region
63
Cells death types
. Apoptosis . Necrosis
64
What is autophagy?
It is when cell organelles are degraded to be recycled or for energy. It can occur to damaged organelles, proteins, or low energy. First, the organelle is induced it into a vesicle, which we call it autophagosome . The autophagosome is fused with a lysosome. The autolysosome breaks down the organelle.
65
What is apoptosis?
Apoptosis is programmed cell death, which is a highly regulated and controlled process. 1. Cell shrink due to the breakdown of the cytoskeleton and the loss of cell membrane rigidity. 2. Chromatin condensation. 3. Membrane blebbing. Cell membrane forms bubble-like blebs. 4. Formation of apoptotic bodies: the cell breaks apart into smaller membrane-bound vesicle 5. Phagocytosis occurs.
66
What is Grifiths experiment and what did it prove?
Grifiths experiment proved the transformation (horizontal gene transfer between bacteria) by using two strains of streptococcus pneumoniae -one avirulent rough strain and one virulent smooth strain- on mice.
67
Describe the Griffiths experiment.
The Griffiths experiment uses two different strain of streptococcus pneumonia: the small strain and the rough strain. The smooth strain contains a capsule that surrounds the bacterium, which protects it from the immune system of the mouse. When the smooth strain is injected, the mouse dies. When the rough strain is injected, the mouse survives. When the heated smooth strain is injected, the mouse survives. When the heated smooth strain is mixed with the rough strain, and it is injected into the mouse, the mouse dies, proving that genetic materials are transferred between bacteria horizontally. This experiment proves the transformation . Transformation is a type of horizontal, genetic transfer where a bacterium picks up, genetic material from a surrounding, typically from a lysed bacteria.
68
When is Griffith’s experiment conducted?
1928
69
Why does the virulent strain of streptococcus pneumonia is called the smooth strain?
It is because the strain has a smooth appearance on agar plates due to its capsule made out of polysaccharides, which protects the bacteria from the host immune system, making it virulent.
70
What are the types of horizontal gene transfer?
Transformation is when a bacteria picks up genetic materials from the surrounding, typically from a lysed bacteria Transduction is when a bacteriophage accidentally injects fragments of bacterial DNA while infecting bacteria. Conjugation is transfer of genetic material between two bacteria through direct contact, pili, and mating bridge.
71
What is vertical gene transfer?
Vertical gene transfer is transfer of genetic material through reproduction from parent to offspring.
72
What is the physiological state that allows transformation (a type of horizontal transfer)?
Competence
73
What did Avery-Macleod-McCarty Experiment prove and discover?
The experiment uses different enzymes to discover which enzyme will stop the transformation process between different bacteria (Grifiths experiment) They use different enzymes such as proteases, lipase, ribonucleases, polysaccharides degrading enzymes, and finally DNAase. Since DNAase stops the horizontal gene transfer process, it is the ‘transformation principle’ and it is responsible for carrying genetic information,
74
What is the process and result of Avery, Macleod, McCarty experiment?
1. The heated virulent S strain streptococcus pneumoniae is extracted. 2. Each extract was treated with different enzymes. 3. After treating with an enzyme, live R strain is added to the extract. 4. The result show that the extracts treated with proteases, or RNAases still transformed R strain bacteria into the virulent one, but the extract treated with DNAase stopped it, proving that DNA is the molecule carrying genetic information.
75
Process of Hershey-Chase Experiment and what did it prove?
1952 experiment 1. One batch of T2 bacteriophage was treated with radioactive sulfur, which is taken up by the bacteria to make capsomere (proteins), and another batch with radioactive phosphorus, which was used by the bacteria to make DNA. 2. Both batches were made to infect E.coli. 3. Phage coats were separated from bacteria. 4. The results show that the radioactive phosphorus was found inside bacteria, proving that DNA is the genetic material.
76
Which chemical element is found in proteins but not DNA, and which is found in DNA but not proteins?
Sulfur is unique to proteins, and phosphorus is unique to DNA.
77
The double helix structure of DNA makes a single full turn per ______ (how many) nucleotides.
Ten
78
The length between two nucleotides is
0.34 nm
79
The double helix structure of DNA molecule makes a single full turn per _______ (length)
3.4 nm
80
The width of a DNA molecule is _____ (length)
2nm
81
Watson and Crick discovered the structure of DNA by ______ (method)
X-ray diffraction
82
Every time we moves from one nucleotide to another, there is an angle change of _____ in the double helix structure of DNA
36 degrees.
83
What are major and minor grooves of DNA, and what are their functions?
The major and minor grooves are the two different-sized spaces that spiral along the DNA double helix, created by the way the DNA strands twist. They are important for protein-DNA interactions, as they allow proteins to access the bases without unwinding the helix.
84
What did the Meselson and Stahl experiment (1958) proved?
The experiment proof that DNA replication is semiconservative.
85
Describe a brief overview of the Meselson and Stahl experiment.
Meselson and Stahl used E.coil bacteria. They grow E.coli in a medium containing heavy nitrogen (N15) isotopes, and then later transferred to N14. After each generation, bacterial cells are harvested, and the DNA was extracted, and centrifuged.
86
Three postulated methods of DNA replication
Conservative (not biologically accurate) Semi-conservative Dispersive (not biologically accurate)
87
Types of horizontal gene transfer
1. Conjugation 2. Transformation 3. Transduction
88
What is conjugation (Horizontal gene transfer) ?
It is the transfer of plasmids (genetic material) between two bacteria by direct contact, and via the sex pilus. 1. Donor and receiver forms a mating bridge via the sex pilus. 2. Donor replicates their plasmid, and transfer it to the receiver. 3. The receiver cell can now also have the f plasmid. 4. Donor doesn’t lose their genetic material.
89
What is Transformations (Horizontal gene transfer)?
Transformation is a type of horizontal gene transfer, where the bacteria picks up an exogenous genetic material. For transformation to occur, a bacterium needs competence (ability to pick up exogenous genetic material). For instance, some bacteria can create pores, in the cell membrane and the cell wall (perforation). In this example, the genetic material is taken into the cell through the pores, and it is incorporated into the bacterial genome using an enzyme. Note: competence can be caused by other traits.
90
Types of competence
1. Natural competence 2. Induced competence
91
What is transduction (horizontal genetic transfer)?
Transaction is a type of bacterial horizontal gene transfer, where a virus acts as a vector in transferring bacterial gene from one organism to another. 1. A virus infects a bacteria, and a viral genome becomes incorporated in the bacterial genome. 2. The viral genome instructs the bacterium to produce viral proteins, and assemble viruse molecules. 3. One of the viruses is defective. It contains a part of bacterial genome instead of viral genome. 4. When the bacteria is lysed, and virus particles escape, that defective virus infects other bacteria transferring the DNA.
92
What is the term used for describing the integration of genetic material that is gained from horizontal gene transfers between bacteria, by giving up a similar piece of its own DNA?
Homologous recombination
93
The term used to depict inactivated X chromosome in females
The Barr body