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IMMS revision questions Flashcards

1
Q

Where is DNA found?

A

The nucleus and mitochondria

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2
Q

What is the structure of a chromosome?

A

DNA wound into a double helix, coiled around histones, and supercoiled into a chromosome. Short arm (p) long arm (q)

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3
Q

How many chromosomes in the human genome?

A

46 (23 pairs)

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4
Q

What is the purpose of mitosis?

A

For producing daughter cells that are genetically the same as the parents, for growth and to replace dead cells

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5
Q

What are the four parts to the cell cycle?

A

Mitosis, Growth phase 1, synthesis phase, Growth phase 2

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6
Q

What is the collective term for G1, G2 and the synthesis phase?

A

Interphase

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7
Q

What occurs during interphase?

A

DNA replication, centrosome replication

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8
Q

What happens during prophase?

A

Chromatin condenses into chromosomes, centrosomes nucleate microtubules and move to opposite poles of nucleus

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9
Q

What happens during prometaphase?

A

Nuclear membrane breaks down, microtubules invade nuclear space, chromatids attach to microtubules

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10
Q

What happens during metaphase?

A

Chromosomes line up along equatorial plane (metaphase plate)

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11
Q

What happens during anaphase?

A

Sister chromatids separate and are pushed to opposite poles of the cell

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12
Q

What happens during telophase?

A

nuclear membranes reform, chromosomes unfold into chromatin, cytokinesis begins

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13
Q

What can studying mitosis be useful for clinically?

A

Detecting chromosomal abnormalities, categorising tumours, grading malignant tumours

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14
Q

What is meiosis?

A

The production of 4 genetically different daughter cells

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15
Q

How does meiosis for sperm differ from egg cells?

A

meiotic divisions commence at puberty, cytoplasm divides equally into four identical gametes, millions of sperm are continually produced

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16
Q

How does meiosis for egg cells differ from sperm?

A

oogonia enter prophase 1 by 8th month of intrauterine life, process suspended until female reaches puberty. Cytoplasm divides unevenly (1 egg and 3 polar bodies produced) meiosis 2 only completed if fertilisation occurs

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17
Q

How are spermatogonia produced?

A

primordial germ cells mitose into spermatogonia

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18
Q

How are oogonia produced?

A

primordial germ cells undergo mitosis 30 times into oogonia

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19
Q

What is non-disjunction?

A

Failure of chromosome pairs to separate in meiosis I or sister chromatids to separate properly in meiosis II

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20
Q

What is gonadal mosaicism?

A

When precursor germline cells to ova or spermatozoa are a mixture of two or more genetically different cell lines - one is normal one is mutated

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21
Q

What are the three classifications of genetic disease?

A

Chromosomal, mendelian, non-traditional

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22
Q

Give examples of mendelian genetic disease types

A

autosomal dominant/recessive, x-linked

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23
Q

Give examples of non-traditional genetic disease types

A

mitochondrial, imprinting, mosaicism

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24
Q

What are the three domains of public health?

A

Health promotion, Health protection, Improving health services

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25
Q

Give examples of health promotion

A

Through education, employment, housing, surveillance

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26
Q

Give examples of areas in health protection

A

Environmental hazards, chemicals, radiation, infectious diseases

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27
Q

What is a multifactorial condition?

A

A disease due to a combination of genetic and environmental factors

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28
Q

Which studies can be used to identify if a disease as a genetic component?

A

twin studies, family studies, adoption studies

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29
Q

How do family studies work?

A

You compare the incidence of a disease amongst relatives of an affected individual compared to the general population

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30
Q

What is a monozygotic twin?

A

an identical twin

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31
Q

What is a dizygotic twin?

A

a non-identical twin

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32
Q

How is heritability of a disease expressed?

A

as a proportion or percentage

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33
Q

What are the characteristics of multifactorial inheritance?

A

The incidence of the condition is greatest amongst the closest relatives of severely affected patients

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34
Q

What is GWAS?

A

Genome Wide Association Studies

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35
Q

What is a neural tube defect?

A

Defective closure of the developing neural tube during the first month of embryonic life

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36
Q

What environmental factors affect embryogenesis?

A

Drugs, chemicals (thalidomide, alcohol), maternal infections (rubella), radiation, diabetes

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37
Q

What is the role of cytogenetics?

A

confirmation of malignancy, classification of a disease type, prognosis, monitoring, looking for inherited abnormalities

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38
Q

Where is the centromere found?

A

At any point on a chromosome (specific to each one)

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39
Q

What is a fusion/hybrid gene?

A

When a break occurs between the two genes involved and fusion creates a hybrid gene

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40
Q

What are the six main types of genetic testing?

A

diagnostic, carrier, predictive, pre-natal test, paternal test, genetic fingerprinting

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41
Q

What are the two methods of gene sequencing?

A

Sanger sequencing, Next generation Sequencing (NGS)

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42
Q

What are the features of sanger sequencing?

A

Single start point, single DNA fragment sequenced, high cost per gene, time consuming, very accurate, simple to analyse

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43
Q

What are the features of NGS sequencing?

A

library of DNA fragments, low cost per gene, very fast, huge amount of raw data to interpret, moderately accurate

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44
Q

What is the problem with NGS sequencing?

A

Sometimes secondary findings occur - consent is really key before any genetic test

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45
Q

What are the advantages of targeted panels?

A

specific genes are selected to sequence, less noise, fewer variants of uncertain significance

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46
Q

What are the two categories of chromosome abnormalities?

A

Numerical, structural

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47
Q

Give examples of numerical chromosome abnormalities

A

trisomy (1 extra chromosome), monosomy (1 less chromosome), polyploidy (more than 2 paired sets of chromosomes)

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48
Q

Give examples of structural chromosome abnormalities

A

translocation, inversions, duplications, deletions

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49
Q

When can non-disjunction occur?

A

In meiosis 1 or 2

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50
Q

What is Edwards syndrome?

A

When a person has an extra chromosome 18

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51
Q

What is Patau syndrome?

A

When a person has an extra chromosome 13

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52
Q

What is Klinefelter syndrome?

A

When a person has XXY

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53
Q

What is triple X syndrome?

A

When a person has XXX

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54
Q

What is turner syndrome?

A

When a person has only one sex chromosome X

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55
Q

Is maternal and paternal triploidy the same?

A

No

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56
Q

What is reciprocal translocation?

A

When part of one chromosome breaks off and attaches itself to the end of another chromosome

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57
Q

What is FISH?

A

Fluorescence in situ hybridisation - when DNA probes are used with fluorophores

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58
Q

What is a microarray?

A

A new technology which improves the resolution of detection of cytogenetic abnormalities

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59
Q

What is a constitutional mutation?

A

Mutation that occurs at gametogenesis, affects all cells of the body, heritable

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60
Q

What is an acquired mutation?

A

Mutation occurs during lifetime, restricted to malignant tissue, not heritable

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61
Q

What are the four main categories of genetic disorders?

A

Chromosome abnormalities, single gene disorders, multifactorial, polygenic disorders

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62
Q

Give examples of common changes in the structure of a chromosome

A

Translocation, deletion, inversions, duplications, ring chromosomes

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63
Q

What is a terminal deletion?

A

When the end of a chromosome is deleted

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64
Q

What does ‘de novo’ mean?

A

‘In child’ - the condition is not inherited from the parents

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65
Q

What are Mendel’s three laws?

A

Segregation - for any gene, when the alleles are made the alleles separate
Dominance - for any gene one allele will be dominant and the other recessive
Independent Assortment

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66
Q

Give examples of mendelian inheritance

A

Autosomal vs sex-linked, dominant vs recessive

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67
Q

Give examples of non-mendelian inheritance

A

Imprinting, mosaicism, mitochondrial inheritance, multifactorial

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68
Q

What does a blank square mean on a pedigree chart?

A

unaffected male

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69
Q

What does a coloured circle mean on a pedigree chart?

A

affected female

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70
Q

What does a square with a diagonal line through it mean on a pedigree chart?

A

deceased male

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71
Q

On a pedigree chart what is the relationship between two people if they are connected by a double line?

A

Reproductive unity between two relatives

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72
Q

What does a triangle mean on a pedigree chart?

A

miscarriage

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73
Q

What does a diamond mean on a pedigree chart?

A

The sex is unknown

74
Q

What is an autosome?

A

Any chromosome other than a sex chromosome

75
Q

Define homozygous

A

The presence of two identical alleles at a given locus

76
Q

Define heterozygous

A

The presence of two different alleles at a given locus

77
Q

What is allelic heterogeneity?

A

The situation where different mutations result in the same clinical condition

78
Q

What are the characteristics of an a autosomal recessive condition?

A

males and females affected in equal proportions, affected individuals only in a single generation

79
Q

What does consanguineous mean?

A

Reproductive unity between two relatives

80
Q

What does autozygosity mean?

A

homozygosity by descent (inheritance of the same altered gene through two branches of the same family - after consanguineous relationship)

81
Q

What are the characteristics of an autosomal dominant condition?

A

Males and females affected in equal proportions, affected individuals in multiple generations, transmission by individuals of both sexes to both sexes

82
Q

What is penetrance?

A

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

83
Q

What is expressivity?

A

The range of phenotypes expressed by a specific genotype

84
Q

What is anticipation (in genetics) ?

A

Where a gene disorder affects successive generations, severity of the disorder increases through the generations usually due to expansion of triplet repeat sequences

85
Q

What is somatic mosaicism?

A

When a genetic fault is present only in some tissues of the body

86
Q

What is gonadal (germline) mosaicism?

A

When the genetic fault is present in gonadal tissue - different variants are found within gonadal cells

87
Q

Define ‘late onset’

A

The condition does not manifest at birth

88
Q

Define congenial

A

The condition manifests itself at birth

89
Q

What is a sex-limited condition?

A

Inherited condition in AD pattern that affects on sex more than the other e.g BRCA1

90
Q

What are the characteristics of X-linked inheritance?

A

usually only males affected, usually transmitted through unaffected females, no male-to-male transmission

91
Q

What is lyonization?

A

X-inactivation - generally only one of two x chromosomes are active in the female cell - can be skewed if one is mutated

92
Q

What is genomic imprinting?

A

An epigenetic phenomenon that causes genes to be expressed in a parent-of-origin manner

93
Q

How is mitochondrial DNA inherited?

A

From mother to child

94
Q

What is homoplasmy?

A

A eukaryotic cell whose copies of mitochondrial DNA are all identical

95
Q

What is heteroplasmy?

A

When there are multiple copies of mtDNA in each cell with different mutations

96
Q

What is a mitochondrial disease?

A

A group of genetic diseases caused by dysfunctional mitochondria

97
Q

What is a polymorphism?

A

A benign allelic variant

98
Q

What is a pathogenic variant?

A

A harmful allelic variant

99
Q

What are the seven main types of variant?

A

Duplications, deletions, splice-site variants, variants within the regulatory sequence, nonsense variant, mis-sense variant, expansion of trinucleotide repeats

100
Q

What is a mis-sense variant?

A

Where one amino acid is replaced by another

101
Q

What is a non-sense variant?

A

The introduction of a premature stop codon

102
Q

What are the two categories of deletions?

A

Out-of-frame / in-frame

103
Q

What is a splice-site variant?

A

Where some of the splice site is deleted causing the introns to be translated

104
Q

What is the splice acceptor site?

A

four bases at the start of a non-coding region indicating where the non-coding region starts

105
Q

What is non-sense mediated decay?

A

A surveillance pathway that removes mRNA transcripts containing premature stop codons

106
Q

How can you tell if it is a polymorphism or a pathogenic variant?

A

If it disrupts the active site or spice site, not seen in large number of normal individuals, seen in other individuals with the same condition, functional studies

107
Q

Give three examples of conditions caused by expansion of a tri-nucleotide repeat

A

Huntingdon’s disease, myotonic dystrophy, Fragile X syndrome

108
Q

What is allelic heterogeneity?

A

When there are lots of variants of one gene

109
Q

What is locus heterogeneity?

A

When variants in different genes give the same clinical conditions

110
Q

What are the three mechanisms of dominance?

A

loss-of-function variants, gain-of-function variants, dominant-negative variants

111
Q

What is a loss-of-function variant?

A

Where only one allele is functioning, if a pathway is very sensitive to the amount of product produced, having only one working allele will cause a problem

112
Q

What is a gain-of-function variant?

A

When increases gene dosage = increased gene activity

113
Q

What is a dominant-negative variant?

A

Where the protein from the variant allele interferes with the protein from the normal allele

114
Q

What is a diagnostic test?

A

If a patient shows symptoms of a disease, a molecular genetic test could confirm diagnosis

115
Q

What is a pre-natal test?

A

A test performed during pregnancy, usually by amniocentesis or a chromonic villous sample

116
Q

What is pre-implantation genetic diagnosis?

A

Testing of one cell from a blastocyst in IVF

117
Q

What is a living organism?

A

Something made up of one or more cells, capable of reproduction, that responds to the environment, grows and requires energy

118
Q

What are macromolecules?

A

large, complex, heterogeneous molecules e.g. haemoglobin

119
Q

What is an oligosaccharide?

A

A polysaccharide with a carbon chain length of 3-12

120
Q

What is a chiral centre?

A

A carbon with four different groups attached

121
Q

What are the names of the two optically active forms when there is a chiral centre?

A

L and D - most sugars in living organisms are D

122
Q

How can monosaccharides become ring structures?

A

The carbonyl group reacts with the hydroxyl group on the same molecule

123
Q

Name four sugar derivatives

A

aminosugars, alcohol-sugars, phosphorylated sugars, sulphated sugars

124
Q

What is a glycosidic bond?

A

A bond between monosaccharides formed when a hydroxyl group reacts with a NH or OH group

125
Q

Where are O-glycosidic bonds found?

A

In polysaccharides

126
Q

Where are N-glycosidic bonds found?

A

In DNA and nucleotides

127
Q

What is a proteoglycan?

A

A long unbranched polysaccharide radiating from a core protein e.g. cartilage

128
Q

What is glycogen?

A

A storage molecule made from polysaccharides attached to glycogenin

129
Q

What are lipids?

A

Molecules made from fatty acids and glycerol

130
Q

What does this mean when naming a fatty acid?

18:1 (triangle)^9

A

18 carbons long, with one double bond which is on the ninth carbon from the methyl group

131
Q

What are phosphoacylglycerols?

A

messenger molecules found in cell membranes

132
Q

What are sphingolipids?

A

molecules found in cell membranes of the brain and nerves

133
Q

What are nucleotides?

A

The monomers that make up DNA, they consist of a sugar, phosphate group and a nitrogenous base

134
Q

What is a nucleoside?

A

The sugar and nitrogenous base part of a nucleotide

135
Q

What are the parts of an amino acid?

A

central carbon, amino group, carboxyl group, hydrogen group and a variable group

136
Q

How does an amino acid’s structure change with pH?

A

Hydrogen ions are removed from the carboxyl group or added to the amino group

137
Q

Give some examples of types of proteins

A

immunoglobulins, fibrous proteins, enzymes, carrier proteins, receptors, neurotransmitters

138
Q

What is a polypeptide?

A

A long chain of amino acids

139
Q

What are the properties of peptide bonds?

A

They are very stable (only cleaved by proteolytic enzymes), flexible so allow multiple conformations

140
Q

Which forces hold proteins together?

A

Van der Waals forces, hydrogen bonds, hydrophobic forces, ionic bonds and disulphide bonds

141
Q

What are van der waals forces?

A

weak forces of interaction between atoms due to fluctuating electrical charges

142
Q

What are hydrogen bonds?

A

Strong intermolecular forces between hydrogen atoms and the lone pair of electrons on a N, O, or F atom

143
Q

What are hydrophobic forces?

A

non-polar side chains are repelled by water so they tend to form tightly packed cores at the centre of a protein

144
Q

What is primary structure?

A

The sequence of amino acids in the chain

145
Q

What is secondary structure?

A

the simple folding of amino acid chains into alpha helixes or beta-pleated sheets

146
Q

What are the supersecondary structures?

A

helix-turn-helix, leucine zipper, beta-alpha-beta unit, zinc finger

147
Q

What is tertiary structure?

A

When secondary structures fold round themselves to form complex 3D molecules

148
Q

What is quaternary structure?

A

a complex 3D structure comprising of more than one polypeptide chain

149
Q

What factors influence the rate of a reaction?

A

temperature, concentration, pressure, catalysts, surface area of reactant, pressure

150
Q

What are isoenzymes?

A

enzymes with a difference sequence and structure but catalyse the same reactions

151
Q

What are coenzymes?

A

structures which aid the function of enzymes

152
Q

What do activation-transfer coenzymes do?

A

they form a covalent bond and are regenerated at the end of the reaction

153
Q

What do oxidation-reduction coenzymes do?

A

They are involved in reactions where electrons are transferred from one compound to another

154
Q

What is the structure of haemoglobin?

A

four polypeptide chains - two alpha and two beta. at the centre of the heme molecule is aporphyrin ring containing an iron ion

155
Q

What factors affect the structure of haemoglobin?

A

temperature, O2 partial pressure, CO2 partial pressure, pH

156
Q

What is sickle cell anaemia?

A

a genetic disorder characterised by the formation of hard sickle-shaped red blood cells, it is caused by a mutation in haemoglobin

157
Q

What are immunoglobulins?

A

Antibodies

158
Q

What is the structure of an antibody?

A

They are made from two heavy chains and two light chains, disulphide bonds hold the chains together

159
Q

What is DNA like in prokaryotes?

A

no nuclear membrane, DNA is often arranged in a single chromosome

160
Q

What is DNA like in eukaryotes?

A

DNA found in the nucleus, bound to proteins, normally in the form of chromosomes, some DNA in mitochondria

161
Q

What are the functions of DNA?

A

Acts as a template and regulator for transcription and protein synthesis, structural basis of heredity and genetic diseases

162
Q

What are the pyramidine bases?

A

Cytosine, Thymine, Uracil

163
Q

What are the purine bases?

A

Adenine, Guanine

164
Q

What are the useful properties of DNA?

A

Heat denaturation, alkali dissociation, hybridisation

165
Q

what is the structure of a prokaryotic chromosome?

A

supercoiled, circular chromosomes, 2mm linear

166
Q

What is the structure of a eukaryotic chromosome?

A

complex packaging, with histones, 2m long

167
Q

Explain the basic concept of DNA replication

A

DNA opens at the replication fork, the base sequence on each parent strand is copied onto a complementary daughter strand, two new strands separated in front of the fork, new DNA is made behind the fork

168
Q

Explain DNA replication in prokaryotes?

A

A binding protein starts the process at a single point of origin, the parental strands separate and form a bubble, both strands are copied simultanteously and in opposite directions, sequences are proof read, replication ends at the termination point, DNA is circularised by ligases, cytokinesis occurs

169
Q

Which enzymes are involved in DNA replication?

A

Polymerases, ligases, helicases, nuclease, primase, topoisomerase

170
Q

Which way does DNA polymerase read and print?

A

It reads 3’ to 5’

It prints 5’ to 3’

171
Q

What are the substrates to DNA polymerase?

A

deoxyribonucleotides and triphosphates

172
Q

Which enzymes open up the DNA strand?

A

Helicase opens the strand, Ssb proteins keep it open, tropoisomerase unwinds it

173
Q

How does DNA replication occur with the lagging strand?

A

DNA polymerase is complementary to the leading strand not the lagging strand so small RNA chains (okazaki fragments) complementary base pair onto the lagging strand, a repair DNA polymerase enzyme, fills in the gaps between fragments and ligase joins the fragments together

174
Q

What are the ways DNA is repaired?

A

base or nucleotide excision, mismatch repair, transcription-coupled repair

175
Q

What is the process of PCR?

A

Heat to 94 degrees to separate strands, cool to add primers, add heat-stable DNA polymerase - repeat, each cycle the amount of strands doubles

176
Q

What are the three types of RNA?

A

mRNA, rRNA, tRNA

177
Q

What is mRNA?

A

A long linear molecule with a poly-A-tail (group of adenine nucleotides at the end)

178
Q

What are 80s ribosomes made from?

A

The four main types of rRNA and proteins

179
Q

What does tRNA do?

A

It carries amino acids to ribosomes

180
Q

What is the structure of a tRNA molecule?

A

Cloverleaf shape, RNA folded and held together by disulphide bridges, has an amino acid binding site, an anticodon

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