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Bio 1090 > Midterm > Flashcards

Midterm Flashcards

1
Q

G1 phase

A

Growth and cellular metabolism

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2
Q

S phase (synthesis)

A

DNA replication, chromosomes duplication

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3
Q

G2 phase

A

Prepare for mitosis

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4
Q

M phase

A

Mitosis

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5
Q

Interphase

A

Time between successive mitosis’s (G1+G2+S)

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6
Q

G0 phase

A

Terminal event. eg. neutrons with axons and dendrites

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7
Q

Why does mitosis happen

A

Growth, cell replacement, healing, reproduction

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8
Q

Prophase

A

Chromosomes condense, centrosomes produce microtubules and migrate to opposite poles

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9
Q

Pro metaphase

A

Microtubules attach to chromosomes and nuclear envelope begins to break down

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10
Q

Metaphase

A

Chromosomes align in centre of cell

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11
Q

Anaphase

A

Sister chromatids migrate to opposite poles

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12
Q

Telophase

A

Nuclear envelope begins to reform, chromosomes condense

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13
Q

meiosis I

A

Randomly separates chromosomes

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14
Q

meiosis II

A

Separates sister chromatids like mitosis

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15
Q

M cyclin

A

CDK helps prepare the cell for mitosis

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16
Q

S cyclin

A

CDK helps initiate DNA synthesis

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17
Q

G1/ S cyclin complex

A

Prepares the cell for DNA replication

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18
Q

DNA replication checkpint

A

Checks for any un-replicated DNA at the end of g2 phase (before cell enters mitosis)

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19
Q

Cell cycle check points

A

Cell replication pauses to make sure it is okay for the cell to go on to the next stage. There are specialized CDK complexes to do so

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20
Q

DNA damage checkpoint

A

Checks for damaged DNA before the cell enters S phase, makes sure genes that inhibit the cell cycle are turned off

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21
Q

Spindle assembly checkpoint

A

Checks that all chromosomes are attached to spindle fibres, after DNA replication checkpoint

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22
Q

Oncogene

A

Cancer causing gene

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23
Q

Proto- oncogene

A

Normal genes important for promoting cell division, but have the potential to become cancerous if mutated

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24
Q

Tumour suppressors

A

genes that encode proteins whose normal activity inhibits cell division

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25
Q

Cancer development

A

Normal cells: Inactivation of the first tumour suppressor gene
benign cancer: Activation of the oncogene
Malignant/ metastatic cancer : Inactivation of the second and third tumour suppressor gene

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26
Q

Principle of dominance

A

In a heterozygote, one allele may conceal the presence of another

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27
Q

Principle of segregation

A

In a heterozygote, two alleles R and r separate themselves in the form of gametes

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28
Q

Principle of independent assortment

A

Alleles on different parts of chromosomes assort independently from one another (in anaphase I)

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29
Q

Addition

A

OR

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30
Q

Multiplicative

A

AND

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31
Q

Monogenic trait

A

When one gene is responsible for one trait

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32
Q

Polygenic trait

A

There are multiple genes responsible for a person’s height

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33
Q

Prophase I

A

Synapse (gene-for-gene pairing)

Bivalent (crossing over)

Chromosomes condense and nuclear envelope begins to break down

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34
Q

Prometaphase I

A

Spindles attach to kinetochores on chromosomes

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35
Q

Metaphase I

A

Mono orientation

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36
Q

Anaphase I

A

Homologous chromosomes separate but sister chromatids do not

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37
Q

Telophase and cytokinesis (meiosis I)

A

Cells go from diploid to haploid

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38
Q

Prophase II

A

Nuclear envelope breaks down and chromosomes condense

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39
Q

Pro metaphase II

A

Spindles attach to the kinetochores on chromosomes

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40
Q

Metaphase II

A

Chromosomes align in the centre of the cell

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41
Q

Anaphase II

A

Sister chromatids separate, replication in policy has already happened

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42
Q

Telophase and cytokinesis (meiosis II)

A

Cytoplasm does not divide equally

Males: Each n cell is a sperm cell

Females: 3 polar bodies and 1 oocyte (egg)

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43
Q

Pedigree of autosomal dominant traits

A

Equal in males and females

Does not skip generations
Affected offspring will have an affected parent (unless they posses a new mutation)

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44
Q

Pedigree characteristics of autosomal recessive traits

A

Equal in both sexes

Skips generations

Affected can be born to unaffected children

Appears more frequently among children of consanguineous marriages

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45
Q

Human sex chromosomes

A

There is a small region of homology where pairing occurs

Y chromosome is our smallest chromosomes

They are not similar enough for any crossing over to happen

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46
Q

Y linkes traits

A

Only boys, passed form father to sons and does not skip generations

47
Q

Nondisjunction

A

Results in eggs with either two X chromosomes or no X chromosomes

Rare XO males receive their X chromosomes from their fathers

48
Q

DNA

A

Polymer: deoxyribose sugar
Phosphate group: 5’ carbon (adds negative charge)

Nitrogenous base: 1’ carbon

OH group: 3’ carbon

49
Q

Nitrogenous bases

A

Purines (double ring): Adenine and guanine

Pyridines (single ring): Cytosine and thymine

Pairing: AT (20%) and GC (30%) each

Hydrophobic

Connected by phosphidiester bonds

50
Q

First level of condensation

A

Wrapped around histone proteins

51
Q

Second level of condensation

A

Supercoiling due to nucleosomal interactions

52
Q

Telomere

A

Protect the ends of chromosomes

Prevent the ends of chromosomes from fusing together

Facilitate replication of the ends of linear DNA

53
Q

Central dogma

A

Information flows from DNA to RNA to proteins

54
Q

Transcription

A

When RNA polymerase reads the strands of DNA and makes a new one

55
Q

Centromeres

A

Hold chromosomes together. Satellite sequence (non- coding DNA)

56
Q

Nucleotide

A

Group of 3 (one codon)

57
Q

Third level

A

Attachment to non- histone protein scaffold

58
Q

quaternary structure

A

Two or more polypeptide chains may form a double helix

59
Q

RNA

A

Ribose sugar (OH on 2’ rather than H)

Uracil replaces thymine, this makes RNA more reactive than DNA

60
Q

RNA synthesis

A

RNA is synthesized on mRNA molecules, from DNA

1) Initiation of RNA synthesis does not require a primer
2) New nucleotides are added to the 3’ end of the RNA molecule
3) DNA unwinds at the front of the transcription bubble and rewinds

61
Q

Prokaryotic transcription

A

Can occur simultaneously by ribosomes

62
Q

RNA splicing

A

Removes introns

63
Q

TATA box

A

Promoter sequence

64
Q

Post transcriptional modification

A

Addition of the 5’ cap: Helps ribosomes bind to 5’ end of mRNA

3’ cleavage and addition of poly(a)tail: Increases stability of mRNA, facilitates binding of ribosome to mRNA

RNA splicing

65
Q

How is genetic code read

A

No spaces between codons and they do not overlap

Most amino acids are specified by more than one codon

Nearly universal

Reading frame defined by an AUG codon near the 5’ end of the RNA

66
Q

Mutations

A

Can arise spontaneously as a result of an error during DNA synthesis or as a result of spontaneous chemical changes that alter the nucleotides

67
Q

Co- dominance

A

The phenotype is between two homozygotes

68
Q

Incomplete dominance

A

There is phenotype that is a mix of two alleles

69
Q

Lethal allele

A

Causes death at an early stage of development, so some genotypes may not appear in the progeny. Heterozygotes are viable. Affects the mendelian genotypic/ phenotypic ratios among live births

70
Q

Penetrance

A

The chance of an individual having a particular genotype that expresses a particular phenotype

71
Q

Incomplete penetrance

A

When the phenotype does not relate to the genotype

72
Q

Lethal allele

A

Causes death at an early stage of development, not common since no homozygous individuals live long enough to reproduce

73
Q

Expressivity

A

The degree to which an allele is expressed

74
Q

Polymorphism

A

An allele found in at least 1% of the population, the rest are mutant alleles

75
Q

Wobble base pairing

A

When thymine and guanine pair together

76
Q

Depurination

A

When A purine site does not provide template for T, so pairs with another A

77
Q

Deamination

A

Removing NH2
Cytosine= uracil
5-methyl cytosine= thymine

78
Q

Somatic mutations

A

Not passed on

79
Q

Germ line mutations

A

Passed non

80
Q

Missense

A

thq one big fly had one red eye

81
Q

Nonsense

A

the one big

82
Q

Strand slippage

A

New strand slips out… addition

Template strand slips out…. deletion

83
Q

Unequal crossing over

A

One chromosome has an insertion, one has a deletion

84
Q

Types of chemical mutation

A

1) Only replicating DNA

2) Both replicating and non replicating DNA

85
Q

Mutations that interfere with non- coding regions

A

Interfere with promoter function to prevent or reduce transcription

86
Q

Recessive gene mutations

A

Almost always involve loss of gene function

87
Q

Complete loss of function

A

Nut allele

88
Q

Partial loss of function

A

Hypermorphic allele

89
Q

Discontinuous characteristics

A

Relatively few phenotypes

90
Q

Continuous characteristics

A

qualitative EG. hair/ skin

91
Q

Polygenic characteristics

A

Genes influenced by genes on many loci

92
Q

Multifunctional characteristics

A

Polygenic characteristics influenced by environmental factors

93
Q

Blood

A

O can donate to anybody
AB can accept from anybody
I^a and I^b are co dominant over I

94
Q

Radiation

A

Chromosome breaks

95
Q

Transposable elements

A

Inserted into staggered cuts in the DNA, different mutations can cause the same disorder

96
Q

Base analogues

A

Molecules that have a very similar structure to a nitrogenous base

5- broumacil may be inlace of thymine, if it pairs with guanine this is bad. If it pairs with adenine it is fine

97
Q

Cleft lip/ cleft plate

A

Ultrasound

98
Q

Amniocentesis

A

Amniotic fluid, cells are cultured, DNA analysis and chromosomal analysis are done

99
Q

Chronic villus

A

Catheter is inserted through vagina into contact with the chorion (outer layer of the placenta). Suction removes a piece to be used for genetic tests (no need to be cultured)

100
Q

Fetal cell sorting

A

Fetal cells can be sorted from maternal cells

101
Q

Pre- implantation genetic diagnosis

A

Abnormal, combined with in vitro fertilization treatments. Sampling of cells at 8 or 16 cell stage

102
Q

Cystic fibrosis

A

Amniocentesis or Chronic villus sampling

103
Q

Dwarfism

A

ultrasound, X rays, Amniocentesis or Chronic villus sampling

104
Q

Hemophilia

A

Fetal blood sampling, amniocentesis or Chronic villus sampling

105
Q

Lesch-nyhan syndrom

A

amniocentesis or Chronic villus sampling

106
Q

Neural tube defects

A

amniocentesis, ultrasound or maternal blood tests

107
Q

Osteogenesis imperfecta

A

Ultrasound or X rays

108
Q

Phenylketonuria

A

amniocentesis or Chronic villus sampling

109
Q

Sickle- cell anemia

A

amniocentesis or Chronic villus sampling

110
Q

Tay- Sachs disease

A

amniocentesis or Chronic villus sampling

111
Q

Dominant mutations

A

Can involve a loss or gain of gene function

112
Q

Loss of function mutation

A

For those genes where one functional copy is not enough (also called haploinsufficiency)

113
Q

Dominant negative mutation

A

A loss of function mutation that interferes with the wild type allele

Bio 1090 (1 decks)

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