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Phase 1 Flashcards > IMMS > Flashcards

IMMS Flashcards

1
Q

What is Adenosine 5’ Triphosphate made up of?

A

Ribose Sugar (5 Carbon Sugar).
3 Phosphate groups.
Nitrogenous Base.

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2
Q

What is the Gibbbs Free Energy of the Hydrolysis of ATP to ADP? What does this mean?

A

Negative- Energy Favourable Reaction.

ATP to ADP releases energy.

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3
Q

What are the products of the reaction of ATP to ADP?

A

Pi and ADP
Hydrogen ion doner.
Energy.

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4
Q

What type of reaction is Glycolysis?

A

Oxidative Reaction

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5
Q

Where does glycolysis take place?

A

Cytosol- Fluid component in the cytoplasm in a cell.

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6
Q

Where does the Krebs cycle take place?

A

Matrix of the mitochondria.

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7
Q

What is glycolysis regulated by?

A

ATP
AMP (Mediate actions of hormones).
Insulin and Glucagon.

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8
Q

What is the Rate Limiting Step in Glycolysis? Enzyme?

A

Fructose-6- Phosphate to Fructoses 1,6- Biphosphate

Phosphofructokinase- 1

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9
Q

How is lactate produced from Pyruvate in anaerobic conditions?

A

Pyruvate oxidised NADH + H+ to NAD+ using the enzyme lactate dehydrogenase.

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10
Q

What tissues reply on anaerobic glycolysis?

A
  • Mature erythrocytes
  • Lymphocytes
  • White Blood Cells
  • Renal medulla
  • Tissue of the eyes
  • Skeletal Muscles
  • Skin (Lactate excreted in sweat).
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11
Q

Functions of Glycolysis:

A
  1. ATP Produced= Energy

2. Generates precursors for biosynthesis.

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12
Q

Regulators of Glycolysis (phosphofructokinase-1) :

A

ATP: allosteric inhibitor (modifies active site decreases infinity for substrate).
AMP: allosteric activator (modifies active site increases infinity for substrate).
Citrate: allosteric inhibitor of phosphofructokinase-1 .
Fructoses-1,6- Bisphosphate and AMP: Liver and adipose tissue where they mediate the effect of insulin and glucagon. They are allosteric activators of phosphofructokinase-1.

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13
Q

Why can the Krebs cycle only take place in Aerobic conditions?

A

Since oxidative phosphorylation is required to covert NADH & FADH2 back to NAD+ and FAD to be

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14
Q

How is the Krebs cycle Regulated?

A

ATP NADH allosterically inhibit Citrate Synthase. Reduce Citrate Synthase affinity for enzyme.
Succinyl Co-A competitively inhibits citrate synthases.
Increased citrate= inhibition of citrate synthases as reduces the speed of cycle.

Isocitrate Dehydrogenase- Isocitrate dehydrogenase activation causes the decrease in the amount of citrate so the citrate synthase reaction rate can increase.

A-Ketoglutarate Dehydrogenase- inhibited by NADH, succinyl- CoA, GTP, ATP and ROS. Activated by calcium ions (ATP- intense exercise).

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15
Q

How is a DNA molecule coiled?

A

Nucleosomes< Supercoils< Chromosomes.

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16
Q

Nucleosome

A

Fundamental subunit of chromatin.

Composed of a little less than two turns of DNA wrapped around a set of eight proteins called histones.

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17
Q

Supercoil

A

Over or under- winding of a DNA strand and is an expression of the strain on the strand.

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18
Q

What staining is used for chromosomes?

A

Giesma

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19
Q

Haploid

A

A cell that contains a single set of chromosomes. Gametes are haploid cells as they contain 23 chromosomes.

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20
Q

Genome

A

The haploid set of chromosomes in a gamete or in each cell of a multicellular organism.

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21
Q

Autosome

A

Any numbered chromosome, which are not sex chromosomes (gametes).

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22
Q

Telomere

A

A structure at the end of a chromosome.

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23
Q

What is Mitosis for?

A
  • Producing two daughter cells which are genetically identical to their parent cell.
  • Growth.
  • Replace dead cells.
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24
Q

Karyotype

A

An individual’s collection of chromosomes.

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25
Q

Chromatin

A

A substance within a chromosome consisting of DNA and protein. The major proteins in chromatin are histones, which help package the DNA in a compact for that firs in the cell.

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26
Q

Chromatids

A

Chromosome

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27
Q

What is the clinical relevance of Mitosis Histology?

A

Detect chromosome abnormalities.
Tumours malignant or benign.
Severity of malignant tumours by looking a the number of mitotic figures in a neoplasm.
Effects of drugs which target mitosis.

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28
Q

Difference between Meiosis and Mitosis:

A

Meiosis Gametes- Mitosis- body cells.
Meiosis- Recombination of genetic information. Mitosis- Two copies of a cell.
Meiosis- 2 cell divisions, Mitosis only 1.
4 haploid daughter cells in meiosis.

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29
Q

What are Spermatogonia?

A

Precursor (indicates the approach) of stem cells

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30
Q

How long does sperm take to produce?

A

60-65 days.

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31
Q

How are eggs produced in women?

A
  1. Germ cell undergoes 30 mitoses to produce oogonia.
  2. Oogonia enter prophase of meiosis I by 8th mon the embryonic life.
  3. Process suspended,
  4. Mitosis when puberty started.
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32
Q

What occurs in Mitosis 1 and mitosis 2 of egg production?

A 
Mitosis 1 (Ovulation)- Daughter cell all cytoplasm and other none.
Mitosis 2 (Fertilisation)- Daughter cell all cytoplasm 3 with none.
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33
Q

What is non disjunction?

A

is the failure of chromosome pairs to separate in Meiosis I or sister chromatids to separate properly in meiosis II which gives rise to trisomy and monosomy.

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34
Q

What is gonadal mosaicism?

A

is where the parents have a mixture of two or more genetically different cell lines, so there is a mutation in the precursor germline cells to ova or spermatozoa so the parent is healthy but the fetus may have the genetic disease.

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35
Q

Examples of Genetic Diseases

A

Down’s syndrome.
Cystic Fibrosis
Huntington Disease
Haemophilia

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36
Q

Examples of Multifactorial Diseases:

A

Spina Bifida
Cleft lip/ palate
Diabetes
Schizophrenia

37
Q

Genotype

A

Genetic constitution of an individual.

38
Q

Phenotype

A

Appearance of an individual (physical, biochemical, physiological) which results from the interaction of the environment and the genotype. E.g. Blue Eyes.

39
Q

Locus

A

A specific, fixed position on a chromosome where a particular gene or genetic marker is located.

40
Q

Allele

A

One of several alternative forms of a gene at a specific location. Disease allele carries a pathogenic variant which stops a gene from working or carrying out its function.

41
Q

Polymorphism

A

Variant at that locus is present in more than 5% of people.

42
Q

Homozygous

A

Both alleles are the same at that locus (e.g. aa).

43
Q

Heterozygous

A

Alleles at a locus are different (e.g. Aa).

44
Q

Hemizygous

A

Only one copy of the DNA sequence in present in a diploid cell. Males are hemizygous for most genes on sex chromosomes having only one X and on Y chromosome (Y chromosome is smaller).

45
Q

Variant

A

Specific region of the genome which differs between two genomes.

46
Q

Classification of monogenetic disorders (one gene is altered in function the disease is developed).

A
  • Chromosomal- A disease caused by an altered number or structure of chromosomes.
  • Mendelian- A single gene disorder. The three main modes of inheritance are autosomal dominant, autosomal recessive and X linked.
  • Non-traditional- There are three types which are mitochondrial, imprinting and mosaicism.
47
Q

Which parent will pass their mitochondrial condition to their child?

A

Mother- Mitochondria too big to bit in sperm.

48
Q

What is the De Novo Mutation?

A

The de novo mutation has occurred in the germ cell (egg or sperm) of one of the parents.

49
Q

What is imprinting?

A

Individuals have 2 genes. For some genes only 1 out of the 2 alleles is active, the other is inactive.

The mechanism of imprinting is there is a carbohydrate group added to the promoter gene to inactive it.

50
Q

Examples of Disease which are a combination of genetic and environmental factors:

A

Genetic variance in gene which control low density lipoproteins- high levels increase risk of heart disease.
Some people have a pathogenic variant in the gene for LDL receptor and have increased genetic predisposition for CHD. Hereditary breast and ovarian cancer due to BRCA genes.
Inherited Alzheimer’s due to pre-senilin 1 variants.
Inherited Parkinson’s due to LRRK2 variants.

51
Q

Positive Eugenics

A

A group of individuals who you want to breed more to get more individuals like themselves

52
Q

Negative Eugenics

A

A group of individuals who do not want to breed anymore, so they would have sterilisation.

53
Q

Genetic Counselling

A

Genetic counselling is the process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder, the probability of developing or transmitting it and of the way in which this may be prevent.

54
Q

What is a Screening Test?

A

The process of identifying people with an increased chance of a condition. However someone who tests positive may not have the condition

55
Q

What is a diagnostic test?

A

Confirms whether the individual has the condition or not.

56
Q

Screening for Down syndrome:

A

First screening is made on the maternal age of the mother. 35 to 37 depending on area.

57
Q

Cordeinet Biopsy

A

Spinal needle going through mother abdomen to collect cells from the placenta or a cannula can go up the vagina to collect these cells. This screening can be carry out at 11 weeks and onwards.

58
Q

Amniocentesis

A

A needle is injected into the amniotic cavity to collect cells in the amniotic fluid. This screening can be carry out at 15 weeks and onwards.

59
Q

What is Mitochondrial Replacement Therapy?

A

Future baby’s mitochondrial DNA comes from a third party.

60
Q

How many genes does the mitochondria have?

A

37 genes (13 code for proteins involved in electron transport chain, 22 in trna genes and 2 in rRNA genes).

61
Q

How are enzymes disease markers?

A

Levels of enzymes in the blood or serum can tell a doctor if a disease is ongoing.

62
Q

What is the core of haemoglobin molecule?

A

Porphyrin ring that holds an iron atom. An iron atom that contains a porphyrin is term themed.

63
Q

If there are high levels of carbon dioxide in the body what happens to haemoglobin?

A

Reduces its affinity for oxygen and releases oxygen more easily which is called Haemoglobin’s primary sequence.

64
Q

What is sickle cell anaemia?

A

Sickle Cell Anaemia is a genetic disorder that is characterised by the formation of hard, sticky, sickle-shaped red blood cells.

65
Q

What is the mutation in sickle cell anaemia?

A

Single nucleotide mutation where the GAG codon changes to a GTG codon. Glutamic acid to Valine.

66
Q

Immunoglobin structure

A

The immunoglobulin fold structure of antibodies comprises of a supporting scaffold (framework regions) that displays a high number of variable loops of complementarity determining regions (CDRs).
Variety of the CDR means many antigens can attach to the antibody.

67
Q

How do CDRs attract antigens?

A
  • Van der Walls Forces- These are weak forces which are effective over a short distance. They have an instantaneous dipole.
  • Hydrogen Bonds- These bonds consist of sharing a protein between electronegative groups. Suitable amino acid groups can form hydrogen bonds.
  • Charged- Charged amino acids can be acidic or basic.
  • Bulk- Bulky amino acid groups can project from the antigen surface.
  • Hydrophocity- Hydrophobic groups resist exposure to surrounding aqueous solvent.
68
Q

What is the epitope?

A

The portion of antigen bound to the antibody.

69
Q

What are macromolecules?

A

A macromolecule is where simple molecules (sugars, lipids and amino acids) can form complex, large molecules.

70
Q

Why is water a universal solvent?

A

Polarity.

71
Q

Are hydrogen bonds weak or strong?

A

Individually hydrogen bonds are weak but a large group of hydrogen bonds are strong.

72
Q

What is the the general structure for carbohydrates?

A

Cn(H2O)n.

73
Q

What is a monosaccharide?

A

Chain of carbons, hydroxyl groups and one carbonyl group.

74
Q

What is an aldose?

A

An aldehyde on Carbon 1

75
Q

What is a ketose?

A

A ketone on mostly Carbon 2.

76
Q

How is a cyclised structure monosaccharide formed?

A

By the reaction of the aldehyde or ketone groups with a hydroxyl group of the same molecule.

77
Q

What can glycosidic bonds react with to form a glycosides?

A

OH- Disaccharides, oligosaccharides and polysaccharides.

NH- Nucleotides in DNA.

78
Q

What is an oligosaccharide?

A

Contains 3-12 monosaccharides

79
Q

What are Proteoglycans?

A

Long unbranched polysaccharides radiating from a core protein

80
Q

What is a lipid?

A

A lipid is made up of mostly 16-20 Carbons in a straight chain with a methyl group and a carboxyl group at the ends.

81
Q

With Delta Nomenclature and Omega Nomenclature how do you name a lipid?

A

Delta- 16:1, Δ9- 16 describes the number of carbons in the chain, 1 describes how many double bonds there are in the chain and Δ9 describes the number of carbons from the carboxylic acid end to the firs carbon with a double bond.

Omega- ω7- describes the carbon number in which the double bond is present counting from the methyl end.

82
Q

What are Phosphoacylglycerols ?

A

Lipids derived from phosphatidic acid. They are formed from fatty acids esterified to glycerol and phosphorylated at the 3 Carbon

83
Q

What are Sphingolipids?

A

Derive of a fatty acid formed from ceramide

84
Q

What are steroids?

A

Multi cyclic structure and you can synthesis steroids from a carbon chain.

85
Q

What are eicosanoids?

A

Signalling molecules made by enzymatic oxidation of arachidonic acid or other polyunsaturated fatty acids. They are synthesised from 20 C atom acids with double bonds on the 3,4 and 5 Carbons.

86
Q

What is a nucleotide?

A

Nitrogenous base, sugar and phosphate.

87
Q

What is a nucleoside?

A

Sugar and a nitrogenous base.

88
Q

What are amino acids made up from?

A

Carbon with an amino group, carboxyl group and a side chain (R).

Phase 1 Flashcards (1 decks)

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