Genetics final test Flashcards

1
Q

Robert Hooke observed the cells for the first time in…

A

1665

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2
Q

Anton van Leeuwenhoek discovered living organisms in water in…

A

1683

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3
Q

Brown discovered the nucleus in the cell in…

A

1833

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4
Q

Rudolf Virchow summarized the state of the current knowledge in latin in…

A

1858

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5
Q

Charles Darwin published his work on evolution and natural selection in…

A

1859

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6
Q

Mendel published his “Versuche uber Pflazen-hybriden” in…

A

1865

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7
Q

How were mendel’s laws of heredity divided?

A
  1. The law of segregation - Alleles segregate randomly into gametes
  2. The law of independent assortment - genes do not influence each other with regard to the sorting of alleles into gametes
  3. The law of dominance - If you breed two individuals with different traits the next generation will have one of each. The trait that is visible is the dominant one.
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8
Q

Fredrich Meiser isolated the nuclei in…

A

1869

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9
Q

Thomas Hunt Morgan used Drosophila Melanogaster (fruit fly) to prove that hereditary traits are carried by chromosomes in…

A

1910

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10
Q

Oswald Avery, Colin MacLeod and Macyl McCarty solved the mystery of transforming principle using a process of elimination in…

A

1944

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11
Q

Transposons - jumping genetic elements was found by Barbara McClintock in…

A

1948

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12
Q

The DNA structure was found by F. Crick, J. Watson, R. Franklin & M. Wilkins in…

A

1953

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13
Q

The genetic code was found by Khorana, Nirenberg & Ochoa in..

A

1966

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14
Q

Reverse transcriptase was found by Baltimore, Temin & Mizutani in…

A

1970

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15
Q

Fredric Sanger invented a new method to reveal DNA sequence in..
And received the noble prize in..

A

1977

Nobel prize: 1980

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16
Q

PCR (Polymerase Chain Reaction) was invented by Kary Mullis in…

A

1987

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17
Q

When were the different genomes found?

A

2000 - fruit fly
2001 - human
2002 - mouse
2004 - chimpanzee, dog, chicken, bee, rat
2007 - cat
2009 - pig

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18
Q

All animals are diploid (true/false)

A

True

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19
Q

Diploid means..

A

In each cell there are 2 copies of the same gene (one from each parent) (46 chromosomes)

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20
Q

Haploid means..

A

In each cell there is 1 copy of a gene. (23 chromosomes)

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21
Q

What -ploid are plants? Haploid or diploid?

A

Plants can be triploid, tetraploid and so on..

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22
Q

Allele means…

A

Gene variants, two or more variants of the same gene with a specific place (locus) in the chromosome

or

The different forms of a segment of DNA that can exist at a particular site in a chromosome

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23
Q

Cell cycle and what phases it consists of..

A

The cell cycle is divided into I for Interphase and M for mitosis/meiosis

Interphase consists of:
- G1 - the gap 1 phase
- S - the synthesis phase
- G2 - the gap 2 phase
- G0 - the resting phase

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24
Q

Mitosis is a mechanism that results in..

A
  • 2 daughter cells
  • Chromosome number and genetic information are conserved
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25
Q

What are the different phases of Mitosis and Meiosis?

A

Mitosis:
- Prophase - membrane disappears
- Metaphase - the spindle develops and the chromosomes line up
- Anaphase - Cromosomes get pulled apart
- Telophase - two cells are formed with the chromosomes and nuclei get developed
- Cytokinesis - The two cells separate

Meiosis:
- Prophase I - membrane disappears and sometimes crossing over can occur between the chromosomes
- Metaphase I - spindle is formed and chromosomes line up
- Anaphase I - the chromosomes get pulled apart
- Telophase I - cells start to form and nuclei get developed
Cytokinesis - the cells get separated

  • Prophase II
  • Metaphase II
  • Anaphase II
  • Telophase II
  • Cytokinesis
    — Repetition of the first steps
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26
Q

What is gametogenesis?

A

Cell division and differentiation leading to the formation of haploid gametes with recombined chromosomes

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27
Q

Differences in female gametogenesis in different species

A
  • Dogs and rodents : can primarily find oocytes even in sexually mature females
  • Rabbit - the ovulation is induced by insemination, not by periodic hormonal level changes
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28
Q

Male vs female gametogenesis

A
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29
Q

Which process induces the zygote pronuclei fusion?

A

Mitosis

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30
Q

Consider no mutations at all. What is the significance of crossing over?

A

Linking the chromosome in bivalents (not increasing diversity)

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31
Q

Spermatocytes are linked by cytoplasmic bridges in order to:

A

Synchronize their divisions

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32
Q

Eucaryotic vs procaryotic chromosome

A

Eucaryotic - composed of one or two linear double helix DNA molecules. Has many replication initiation sites.

Procaryotic - composed of one circular double helix DNA molecule. Has only one replication initiation site.

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33
Q

Number of cells in our body. Lenght of each cell’s DNA. Total length of human’s body DNA.

A

37,2 Trillion cells

2 meters of DNA length per cell

74,4 billion km of length, or 250 trips to the sun and back

34
Q

Condensed chromosome structure and how it gets there

A
35
Q

Chromosome structure (names of the different parts)

A
36
Q

Centromere location, names

A
37
Q

Chromosome staining produces a banding pattern dependent on…

A
  • How tightly chromatin is condensed
  • What is the ratio of G-C and A-T in DNA sequence
38
Q

What does chromosome staining allow us to identify?

A

It allows us to identify homologous chromosomes and changes in karyotypes such as chromosomal abnormalities.

in short:
- Homologous chromosomes
- Changes in karyotypes
—> Abnormalities

39
Q

G-banding, what stain and what does it show?

A

Giemsa stain

  • It shows darker colors in regions with high A-T content
  • Light color in active regions
40
Q

Q-banding, what stain and what does it show?

A

Quinacrine stain

  • It shows fluorescent bands in regions with high A-T content
41
Q

R-banding, what stain and what does it show?

A

Reverse Giemsa stain

  • It shows dark bands in places with high G-C content

(Inverted G-banding)

42
Q

C-banding, what stain and what does it show?

A

Constitutive heterochromatin stain

  • Dark bands in densely packed heterochromatic regions
43
Q

Ag-NOR banding, what does it show?

A

It shows dark bands in nucleoar organising regions

44
Q

What is a idiogram?

A

A schematic depiction of the karyogram

  • shows typical banding pattern
45
Q

What is aneuploidy? How many infants are born with it? How many miscarriages are aneuploid?

A
  • Aneuploidy is the most commonly identified chromosome abnormality in humans. Cell division abnormalities.
  • About 1 in 300 infants are born with it

About 1 in 3 miscarriages are aneuploid

46
Q

Examples of aneuploidy

A
  • Down syndrome - trisomy 21
  • Klinefelter syndrome
  • Edwards syndrome - trisomy 18
  • Patau syndrome - trisomy 13
47
Q

Chromosomal theory of inheritance

A
  1. Genes have their loci on chromosomes
  2. Genes are located linear along the chromosomes
  3. Genes on the same chromosome create a linkage group
  4. Homologous chromosomes can interchange their fragments via crossing-over
  5. The frequency of interchange between two loci is dependents on the distance between them
48
Q

Class 1 and 2 markers

A

Class 1 - proteins
- One quality trait determined by one allele pair which is useful for genetic analysis

Class 2 - DNA
- Polymorphic non-coding DNA sequences

49
Q

Genetic markers significance

A
  • Pedigree research
  • QTL - Quantitative Trait Loci
  • MAS - Marker Assisted Selection
  • GWAS - Genome-wide Association Study
50
Q

Linked traits

A
  • Mammals have 20 000 genes on 23 chromosomes
  • Genes located on one chromosome are more frequently inherited together than genes on different chromosomes
51
Q

First genetic map, sturtevart was made in… by…

A

it was made in 1913 by T.H. Morgan student

52
Q

Lethal alleles..

A
  • Decrease fitness
  • Usually cause premature death in recessive homozygotes
53
Q

Non-allelic genes interaction

A
  • Involves the interaction between two or more genes
54
Q

Supplementary genes

A
  • Two non allelic dominant genes that interact and result in a new phenotype
55
Q

What is epistasis?

A

When one gene masks the effect of the other gene

56
Q

Epistatic gene vs Hipostatic gene

A

Epistatic - The gene that masks another gene

Hipostatic - gene that’s masked by another gene

57
Q

Complementary genes

A
  • Two independent pairs of genes which interact to produce a trait together but each dominant gene alone does not show its effect
58
Q

Modifier genes

A
  • They change the phenotypic expression of another gene
59
Q

What is the latin name of the fruitfly from the experiments?

A

D. melanogaster

60
Q

Why do we use them for breeding experiments?

A
  • Short life cycle - 10-15 days
  • High fertility - 500 eggs in lifespan
  • Easy to culture
  • Many genes are similar to human
61
Q

How to determine the sex of a fruit fly?

A

Based on their abdomen, females have large striped abdomens and males have smaller abdomens with a big black stripe on the bottom.

Males also have sex combs on their first pair of legs

62
Q

What do fruit flies in the lab eat and what do we use for anesthesia?

A

They eat corn meal food with yeast, propionic acid and paraben (anti-mold)

For anesthesia we use chloroform or chilling

63
Q

Where is the polytene chromosome in flies?

A

In the salivary glands and other secretory glands

64
Q

What are the four DNA and RNA bases?

A

DNA:
- Adenine
- Cytosine
- Guanine
- Thymine

RNA:
- Adenine
- Cytosine
- Guanine
- Uracil

65
Q

Types of cells:

A

Stem cells ->
- Muscle cells
- Blood cells
- Nerve cells
- Cardiac cells
- Liver cells
- Intestinal cells

66
Q

Transcription factors

A
  • Proteins binding to the regulatory DNA regions, facilitating or inhibiting transcription
67
Q

Homeotic genes

A
  • Genes which regulate the development of anatomical structures in various organisms
68
Q

Epigenetic regulation

A
  • Gene expression regulative mechanism, which are hereditary, but do not include changes in the DNA sequence
69
Q

DNA methylation

A
  • Addition of methyl group to cytosine
  • Decrease in transcription factor affinity
70
Q

Histones modification

A
  • Chromatin remodeling
  • Histone tail modification changes histone affinity to DNA
71
Q

X-chromosome inactivation

A
  • Only one X chromosome is active
  • It is a kind of imprinting
  • THe process is random and takes place during morula –> blastocyst transition
72
Q

What does PCR stand for?

A

Polymerase Chain Reaction

73
Q

What process is important in PCR?

A

DNA replication

74
Q

What is ivermectin?

A
  • Anti-parasitic drug, macrocyclic lactone form avermectn family,
  • Used for animals and humans,
  • Kills wide variety of parasites including worms and mites
  • Does not penetrate blood-brain barrier.
75
Q

Symptoms of Ivermectin hypersensitivity in dogs

A

Neurological symptoms
- apathetic,
- lack of coordination,
- convulsion,
- coma,

76
Q

What is the cause of Ivermectin hypersensitivity in dogs?

A

Deletion of 4 nucleotides in MDR1 gene coding ABCB1 transporter.

77
Q

What is PCR?

A

It’s DNA replication on repeat

78
Q

What steps occur in PCR and at what temperatures?

A

Denaturation - 94-96C
Annealing - 68
C
Elongation - ca. 72*C

79
Q

What are mutations?
What is the cause of mutations?
Are they all heritable?

A

What are mutations?:
- Uncorrected mistakes during replication or cell division.
- Permanent alterations of the nucleotide sequence

What is the cause of mutations?:
- Errors during DNA replication or other damage to DNA
- Errors during DNA repair
- Insertion or deletion of segments of DNA

Are they all heritable?:
- no
–> Mutation causing death or infertility before reproduction
–> somatic mutations (do not give rise to sex cells)
- yes
–> germ-line mutation (in reproductive cells)

80
Q

Chromosome aberrations (mutations of part of one or two chromosomes) balanced vs unbalanced

A

Balanced
- translocation
- fusion
- centric fusion
- inversion
– Decreases fertility

Unbalanced
- deletion
- duplication
- isochromosomes
– Mostly lethal

81
Q

What is a population?

A

A group of organisms of the same species that are found in the same area and can interbreed