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NeuroGenetics Flashcards

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1
Q

The building blocks of the genetic code are called what?

A

Nucleotides or bases

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2
Q

What are the 4 different bases?

A

Adenine, cytosine, guanine, thymine

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3
Q

What are the building blocks of proteins?

A

Amino Acids

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4
Q

A specific sequence of 3 bases constitutes the genetic code for a particular what?

A

Amino Acid

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5
Q

There are 3 billion bases in the whole what?

A

Human Genome

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6
Q

How many genes code for proteins?

A

20-25 thousand

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7
Q

How do bases always pair together?

A

Adenine with thymine and cytosine with guanine

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8
Q

The DNA helix is what stranded?

A

Double

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9
Q

How is DNA bundled?

A

In Chromosomes

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10
Q

The human karyotype consists of how many chromosomes?

A

46

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11
Q

What are the 46 chromosomes made up of?

A

22 pairs of autosomal chromosomes and 2 sex chromosomes (XX or XY)

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12
Q

The function of a protein is determined by its what?

A

Strucutre

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13
Q

Structure is determined by what?

A

Sequence of amino acids

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14
Q

How are amino acids represented?

A

sequence of 3 bases, called a codon

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15
Q

Can a change to a single base change an amino acid?

A

Yes

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16
Q

Can changing the amino acid change the structure and function of the protein?

A

Yes

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17
Q

What is an SNP?

A

a single nucleotide polymorphism, which is a position on the genome at which the base (nucleotide) differs between individuals)

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18
Q

What is an allele?

A

A copy of a possible form of a gene

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19
Q

What is a phenotype?

A

presence of absence of a trait of interest

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20
Q

What is an insertion deletion variation

A

bases added or missing

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21
Q

what do you call multiple bases substituted?

A

Block substitution variation

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22
Q

Inversion variation?

A

Bases replaced with responding sequences from another strand

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23
Q

Copy number variant?

A

bases repeated one or more times

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24
Q

What qualifies as a mutation in genetic variation?

A

less than 1% of alleles in the population are affected

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25
Q

What qualifies as a polymorphism in a genetic variation?

A

They are common and they are greater than 1%

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26
Q

In females, how is excess dosage of the X chromosome managed?

A

one copy of the X chromosome in each cell is silenced or inactivated

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27
Q

What does the XIST gene do?

A

produces and RNA transcript that coats on chromosome and inactivates it

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28
Q

What does TSIX gene do?

A

inactivates the XIST gene

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29
Q

TSIX is the what partner?

A

Antisense

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30
Q

What is nature/nurture influence on phenotypes?

A 
P = G + E 
Phenotype = variance from genes + influence from the environment + variance from gene environment interactions + covariance between genes and environment
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31
Q

What is covariance?

A

Some genetic variances are just more likely to exist in some environments

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32
Q

What is heritability?

A

Is the proportion of the phenotypic variance due to genetic causes

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33
Q

Is heritability local?

A

Yes, it is a local measurement, valid for a specific population at a specific time

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34
Q

Are disorders considered heritable?

A

Yes

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35
Q

Is ADHD, Schizophrenia and BPD considered highly heritable?

A

Yes

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36
Q

How do we study heritability in twins?

A

Concordance rates - if one twin has a trait or disorder, does the other one have it?

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37
Q

Do monozygotic twins share identical DNA material?

A

Yes

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38
Q

Do Dizygotic twins share the identical DNA material?

A

No, they only share about 50%

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39
Q

If there is a higher concordance in monozigotic twins than dizygotic twins, would this suggest there is a genetic component?

A

Yes!

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40
Q

What are monogenic disorders?

A

Disorders that can be identified or traced back to a single gene

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41
Q

Can dominant genes skip generations?

A

No

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42
Q

Autosomal disorders are equally common in both sexes, true or false?

A

True

43
Q

What is the relationship with father and sons and X-linked disorders?

A

X linked disorders cannot be transferred from fathers to sons because the fathers give the sons the Y chromosome

44
Q

What is the relationship between affected father and daughter of X-linked inheritance?

A

Daughters of affected father must be affected. They must get their fathers X chromosome

45
Q

What is the relationship between fathers and daughters and recessive X linked inheritance?

A

fathers of affected daughters must be affected.

46
Q

Square =

A

Male

47
Q

Circle =

A

Female

48
Q

Recessive inheritance is more common in sons. True or False?

A

True

49
Q

What is the trait of recessive?

A

Both parents may not be affected by the offspring may be

50
Q

What is the weird trait of recessive?

A

Two unaffected parents cannot have unaffected offspring

51
Q

Polygenic disorders are the norm. They are?

A

Disorders that incorporate many genes in their cause

52
Q

What is GWAS?

A

Genome wide association studies

53
Q

What is the genome?

A

The complete set of chromosomes in a gamete or microorganism, or in each cell of a multicellular organism

54
Q

Genome Wide Association Studies examine what?

A

Statistical association between phenotype and many SNP markers throughout the genome

55
Q

What is linkage disequilibrium?

A

Chromosomes are mosaics and many variants are correlated

56
Q

Quantitative traits use the what model?

A

Allelic dosage model. Extra doses of the minor allele have an affect on the phenotype. It is being asked if there is an association between the phenotypic measurement and the number of copies of the minor allele

57
Q

Categorical and binary traits are tested using a what model?

A

An allelic association model. Is one of the two alternative alleles over represented in the phenotypic group?

58
Q

What does a Manhattan Plot do?

A

Graphically summarises the results of all our individual tests of association

59
Q

One point on the Manhattan plot represents what?

A

The outcome for a test for one SNP

60
Q

Why is the p value of the Manhattan test so high?

A

Threshold for significance must be set high to reduce likelihood of error

61
Q

Most disorders are non monogenic. True/False?

A

True

62
Q

Smallest p equals what?

A

Largest difference/highest point in manhattan plot

63
Q

Why do we get skyscrapers in the Manhattan plot?

A

multiple SNPs in linkage disequilibrium with a functional SNP OR multiple functional SNPs in the same gene

64
Q

A meta analysis of bipolar found 2 genes to be associated. What is one function of these 2 genes?

A

Proteins from both of these genes regulate the flow of ions in and out of neurons during an action potential

65
Q

What affected these genes AND also used to treat Bi-polar?

A

Lithium down regulated these genes

66
Q

What does GWAS stand for?

A

Genome Wide Association Studies

67
Q

Largers samples size gives more or less statistical power to discover differences

A

More

68
Q

Schizophrenia had previously been linked to what?

A

Abnormal dopamine receptors

69
Q

What did GWAS find in regards to schizophrenia?

A

A dopamine receptor gene was related to schizophrenia

70
Q

GWAS can point to environmental risk factors? True/False?

A

True

71
Q

What are endophenotypes?

A
  • indicators of a more immediate relationship
  • single quantitative traits
  • Can be used on psychologically normal participants
72
Q

What are examples of endophenotypes?

A
  • Cognitive measures
  • Neurophysiological measures
  • Psychomotor measures
  • Anomolies of basic visual perception
73
Q

What does ASD and Schizophrenia have in common?

A

A certain disturbance in visual sensitivity

74
Q

What is the pathway of link between schizophrenia and the gene PDZKI

A
  • PDZKI interacts with NMDA receptors
  • NMDA receptors play a critical role in contrast gain control in the retina
  • perceptual abnormalities in schizophrenia have been suggested to arise from NMDA receptor dysfunction
75
Q

Perceptual abnormalities observed in two different disorders may be linked by ____ _____ _____ that affect synaptic function

A

common genetic elements

76
Q

Why are endophenotypes used?

A

They can yield larger genetic effects than diagnoses

  • it avoids difficulties with diagnosing categories
  • it allows testing of psycho normal patients
  • biological mechanisms likely to be simpler to determine than complete psycho disorders
77
Q

Is life cycle and neural complexity correlated?

A

Yes

78
Q

What is forward genetics?

A

random mutations are induced
mutagenised animals are crossed with wild
animals are screened for phenotypes
animals with phenotypes are genotyped

79
Q

What is reverse genetics?

A

TARGETED mutations are introduced and the phenotype is measured

80
Q

What is the CRISPR-Cas9 system?

A

a natural part of a bacteriums defence against invading viruses

81
Q

What can it be used for?

A

targeted genetic mutations in model organisms

82
Q

What does RNA do in the process?

A

Guides the Cas9 to the targeted part of the DNA, where it cuts the DNA

83
Q

What is optigenetics?

A

Use of microbial opsins to excite or inhibit neurons by light

84
Q

How does CRISPR Cas9 manipulate genes?

A

Sending in correct corresponding RNA to suit the targeted DNA. Depending on what DNA we send in, we can recombine and replace the DNA strucutre

85
Q

What are opsins?

A

groups of proteins, made light sensitive

86
Q

How are opsins introduced?

A

Through the adeno-associated virus

87
Q

Channelrhodopsin-2 responds to _____ light and ____ light allows ____ ions into the cell

A

Channelrhodopsin-2 pump responds to blue light and blue light allows positive ions into the cell

88
Q

What does blue light process do?

A

Causes depolarisation which is a neural excitation

89
Q

What does the yellow light process do?

A

Causes hyperpolarisation, which results in neural inhibition

90
Q

What can stimulation of a particular rhodopsin do?

A

Show us what behaviours are evoked or suppressed when particular cells are excited or inhibited

91
Q

What does combing the optogenic and the CRISPR-Cas9 system allow for?

A
  • Light controlled protein editing

- Light controlled genome editing

92
Q

Genetic associations with behaviour can define biological pathways involved. True/False?

A

False, they can only hint at the complex biological pathways involved

93
Q

What can bioinformatics do?

A

Translate a human genetic mutation to target a homogolous gene in a model organism

94
Q

What do model organisms do?

A

Allow for more direct measurement of structure, function and behaviour

95
Q

Individuals with one or two copies of the G allele showed lower trait anxiety than individuals homozygous for the c allele is a sign of what?

A

Connecting genes to behaviour

96
Q

What is the HTR1A SNP associated with?

A

Serotonin binding potential

97
Q

In HTR1A, what alleles were associated with the increased binding potential?

A

The G allele

98
Q

What is unusual about the Serotonin 1A (5-HT1A) receptor?

A

It is an autoreceptor and is located on the presynaptic neuron and monitors how musch serotonin is in the synapse from the pre-synaptic neuron

99
Q

Reduced capacity for regulation of 5-HT release is associated with what?

A

Increased amygdala reactivity

100
Q

Increased amygdala reactivity is associated with increased trait what?

A

Anxiety

101
Q

Without the rs6295 G allele 5-HT binding is low and therefore what?

A

Greater amydala reactivity (there is less serotonin available in the synapse)

102
Q

With the rs6295 G allele, there is high 5-HT binding, therefore low amygdala reactivity therefore what behaviour trait?

A

Low amygdala reactivity

103
Q

How could low 5-HT binding lead to high amydala reactivity?

A

The 5-HT1A receptor is an autoreceptor so lower receptor density reduces capacity for regulating 5-HT release

104
Q

In summary, presence of the G allele means what?

A

Low anxiety

Bio Psych (3 decks)

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