IMMS Flashcards

1
Q

How many chromosomes are in a normal human somatic cell?

A

46

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2
Q

What separates the p and q arms in a chromosome?

A

the centromere

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3
Q

How many daughter cells are produced in mitosis?

A

2

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4
Q

Describe a cell’s position in the cell cycle if it is in G0?

A

It is not in the cell cycle

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5
Q

What replicates in the synthesis phase of the cell cycle?

A

DNA and the centrosome

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6
Q

What happens during prophase?

A
  1. Chromatin condenses into chromosomes
  2. Nuclear membrane starts to break down
  3. Centrosomes move to opposite poles of the cell and nucleate microtubules
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7
Q

What happens during prometaphase?

A
  1. The nuclear membrane breaks down and the chromosomes are released into the cytoplasm
  2. Chromatids attatch to microtubules
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8
Q

What happens during metaphase?

A

Chromosomes line up along equatorial plane of cell (metaphase plate forms)

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9
Q

What happens during anaphase?

A

Microtubules shorten and pull the identical chromatids apart towards opposite poles of the cell

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10
Q

What happens during telophase?

A
  1. Nuclear membrane reforms
  2. Chromosomes unfold into chromatin
  3. Cytokinesis begins
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11
Q

Which chromosomal disease is trisomy 21?

A

Down syndrome

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12
Q

How many daughter cells are produced in meiosis?

A

4

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13
Q

When can crossing over occur in meiosis?

A

prophase 1

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14
Q

spermatogonia are formed from the division of what type of cells?

A

Primordial germ cells

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15
Q

How many days does it take for spermatozoa to mature?

A

60-65

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16
Q

What does non-disjunction result in?

A

an abnormal number of chromosomes

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17
Q

When does germline mosaicism occur?

A

when precursor germline cells to ova or spermatozoa are a mixture of two or more genetically different cell lines

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18
Q

What is a somatic cell?

A

any cell apart from a reproductive cell

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19
Q

What is the word for programmed cell death?

A

apoptosis

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20
Q

What is a geneotype?

A

The genetic constitution of an individual

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21
Q

What is a polymorphism?

A

frequent hereditary variation at a locus

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22
Q

What does hemizygous mean?

A

Only one allele

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23
Q

What would the karyotype of a male with Down syndrome be?

A

47XY+21

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24
Q

What is an autosomal recessive disease?

A

Disease that manifests in the homozygous state

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25
Q

What are macromolecules and give examples ?

A

Large biologically important molecules inside cells

e.g glycogen, haemoglobin, DNA, Collagen, Rhodopsin

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26
Q

Which monosaccharides form maltose?

A

glucose+glucose

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27
Q

Which monosaccharides form lactose?

A

glucose+glalactose

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28
Q

How many monosaccharides form an oligosaccharide?

A

3-12

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29
Q

What type of bond links nucleotides

A

phosphodiester bond

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30
Q

What type of bond links amino acids to form proteins?

A

peptide bond

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31
Q

Name two purines

A

Adenine, guanine

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32
Q

Name three pyrimidines

A

uracil, cytosine, thymine

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33
Q

What is the primary structure of a protein?

A

The sequence of amino acids

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34
Q

What is the secondary structure of a protein?

A

Defined by local conformations induced by hydrogen bonding along the peptide backbone

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35
Q

What is the tertiary structure of a protein?

A

3D arrangement of a protein molecule

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36
Q

What is the quaternary structure of a protein?

A

Structural relationship of more than one polypeptide joining together

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37
Q

What are the two types of coenzymes ?

A

Activation and oxidation

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38
Q

what is a porphyrin ring that contains iron called?

A

heme

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39
Q

Give two types of secondary structure

A

alpha helix, beta sheet

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40
Q

Describe the alpha helix secondary protein structure

A

hydrogen bonds between each carbonyl group and the hydrogen attached to the nitrogen which is 4 amino acids along the chain

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41
Q

Which amino acid can break the alpha helix ?

A

proline

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42
Q

How is the beta sheet formed?

A

Hydrogen bonds between linear regions of polypeptide chains

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43
Q

What is a supersecondary protein structure?

A

A combination of secondary structures

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44
Q

What are isoenzymes?

A

enzymes that have different structures and sequences but catalyse the same reaction

45
Q

What is aneuploidy ?

A

Having an abnormal number of chromosomes

46
Q

What is an allele?

A

One or more alternative forms of a gene at a given locus

47
Q

What does it mean to be heterozygous?

A

presence of two different alleles at a given locus

48
Q

What is allelic heterogeneity?

A

The situation where different mutations within the same gene result in the same clinical condition e.g cystic fibrosis

49
Q

Give an example of an autosomal recessive disorder

A

cystic fibrosis

50
Q

What is consanguinity?

A

Reproductive union between two relatives

51
Q

What are the typical features of autosomal dominant inheritance?

A
  1. Males and females affected in equal proportions
  2. affected individuals in multiple generations
  3. Transmission by individuals of both sexes to both sexes
52
Q

What is penetrance?

A

the percentage of individuals with a specific genotype showing the expected phenotype

53
Q

What is expressivity?

A

The range of phenotypes expressed by a specific genotype

54
Q

What is anticipattion?

A

Where a genetic disorder affects successive generations earlier or more severely

55
Q

What is somatic mosaicism?

A

genetic mutation only present in some tissues in the body

56
Q

What is gonadal mosaicism

A

genetic mutation only present in gonadal tissue

57
Q

What is a sex-limited condition?

A

condition inherited in an autosomal dominany pattern that affects one sex more than another

58
Q

What are the typical features of an X-linked condition?

A
  1. Usually only males affected
  2. Usually transmitted through unaffected females
  3. no male-to-male transmission
59
Q

What us lyonization?

A

generally only one of two X chromosomes is active in each female cell

60
Q

What is genomic imprinting?

A

an epigenetic phenomenon that causes genes to be expressed in a parent of origin specific manor

61
Q

What is homoplasmy?

A

Describes a cell whose copies of mtDNA are all identical

62
Q

What is heteroplasmy?

A

Variation of mtDNA within a cell

63
Q

What is a codon?

A

Three nucleotides that code for an amino acid

64
Q

What is a multifactorial condition?

A

Due to a combination of genetic and environmental factors

65
Q

What is hereditability?

A

The proportion of aetiology that can be ascribed to genetic factors as opposed to environmental factorsW

66
Q

What can we call the factors that influence the development of a multifactorial disorder

A

liability

67
Q

Describe the distribution of liabilities of all individuals

A

normal distribution

68
Q

Describe the curve of the liability/theshold model for relatives compared to the general population

A

Curve for relatives is shifted right

69
Q

What is prevalence?

A

total number of people in the population who have a disease

70
Q

What is incidence?

A

the number of new cases per year within the population that don’t yet have the disease

71
Q

What is the concordance rate in the context of a twin study?

A

the % of twin pairs studied that both have the condition

72
Q

What is the function of cholesterol in cell membranes ?

A

provides stability

73
Q

What is the phospholipid bilayer freely permeable to?

A

water,gases and small uncharged polar molecules e.g urea, ethanol

74
Q

What is the phospholipid bilayer impermeable to?

A

ions, charged polar molecules, large uncharged polar molecules

75
Q

What is the function of the golgi body?

A

mediates protein sorting to specific sites

76
Q

How many subunits to g proteins that associate with GPCRs have ?

A

3- alpha,beta and gamma

77
Q

What is the function of adenyl cyclase?

A

catalyses synthesis of cAMP from ATP

78
Q

Which second messengers does phospholipase C catalyse the synthesis of?

A

IP3 and DAG

79
Q

What is paracellular transport?

A

transfer of substances across an epithelium by passing through intercellular space between cells

80
Q

Which g protein subunit determines the type of second messenger synthesised?

A

alpha

81
Q

What does the trophoblast develop into?

A

the placenta

82
Q

What does the inner cell mass develop into?

A

the baby

83
Q

What does the bilaminar disc consist of?

A

ectoderm and endoderm

84
Q

Which layer forms between the ectoderm and endoderm?

A

the mesoderm

85
Q

What does the ectoderm develop into?

A
epidermis of skin, hair and nails
mammary, sweat and sebaceous glands 
CNS
peripheral nervous system 
pituitary gland 
enamel of teeth 
lens of eye 
parts of the inner ear 
sensory epithelium of nose, ear and eye
86
Q

what does the endoderm develop into?

A

epithelial lining of the GI tract, respiratory tract and urinary bladder
parenchyma of thyroid gland, parathyroid gland, liver and pancreas
epithelial lining of the tymapnic cavity and autitory tube
plays a part in the development of the notochord

87
Q

what does the mesoderm develop into?

A
All of the musculoskeletal system 
deep layers of the skin 
abdominal and chest walls and lining
the walls of the bowel (but not the lining)
the urogenital system
88
Q

What are the chemical messengers made by the notochord called?

A

sonic hedgehog

89
Q

What are the somites formed from?

A

mesoderm

90
Q

Give three types of mesoderm

A

Paraxial (somites)
intermediate mesoderm
lateral mesoderm

91
Q

What does the paraxial mesoderm form?

A

The myotome
The sclerotome
The dermatome

92
Q

What does the intermediate mesoderm form?

A

The urogenital system

93
Q

What does the lateral mesoderm form?

A

Outer layer- covers the inside of the chest and abdominal walls- somatic layer mesoderm
Inner layer- covers the organs in the thorax and abdomen- the splanchnic mesoderm

94
Q

How many hydrogen bonds are between G and C?

A

3

95
Q

List the core histones

A

H2A, H2B, H3, H4

96
Q

How long does the mitosis part of the cell cycle last?

A

1 hour

97
Q

What is the longest phase of the cell cycle?

A

G1

98
Q

What is the function of topoisomerase?

A

unwinds supercoiling

99
Q

What is the strand that is synthesised continuously referred to as?

A

the leading strand

100
Q

What is meant by semi-conservative replication?

A

The two resuling DNA copies each have one strand of parental DNA and one newly constructed strand

101
Q

What is the function of helicase?

A

Unwinds the DNA double helix

102
Q

What is the function of SSBs?

A

coat the single stranded DNA and prevents the strands from re-annealing

103
Q

What is the function of primase?

A

Synthesies RNA primers

104
Q

What is the function of DNA polymerase?

A

Joins nucelotides to form a DNA strand

105
Q

What is the sliding clamp?

A

An accessory protein that helps to hold DNA polymerase onto the DNA strand

106
Q

Which enzyme removes RNA primers from the DNA?

A

RNase H

107
Q

Which enzyme links together short sections of DNA to make one long strand?

A

Ligase

108
Q

In which direction does DNA synthesis occur?

A

5’ to 3’

109
Q

What is the name of the DNA pieces separated by RNA primers in the lagging strand called?

A

okazaki frgaments