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MRCPsych Part A big > Molecular Genetics 2 > Flashcards

Molecular Genetics 2 Flashcards

1
Q

Function of G72?

A

Oxidize serine - an activator of glutamate transmission via modulatory site on NMDA receptor.

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2
Q

How does G72 lead to schizophrenia?

A

Inadequate DAOA function may lead to problems in modulating glutamate signal in areas of brain like prefrontal cortex.
G72 my be involved in maintaining neural structure.

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3
Q

What do antidepressants do to BDNF?

A

Increased central BDNF in animals

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4
Q

Which chromosome is DISC1 (disrupted in schizophrenia 1) found?

A

1q

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5
Q

What is DISC1 associated with?

A

Microtubules

Mice: abnormal neuronal migration and dendritic organization in delevoping cerebral cortex.

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6
Q

How does DISC1 play a role in mood regulation?

A

Ineracts with phosphodiesterase 4B

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7
Q

Which three genes are associated with other behavioural phenotypes, which interact with environment to increase risk of major depression?

A

5HTT

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8
Q

Which three genes are associated with other behavioural phenotypes, which interact with environment to increase risk of major antisocial personality disorder?

A

MAOA

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9
Q

Which three genes are associated with other behavioural phenotypes, which interact with environment to increase risk of schizophrenia?

A

COMT

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10
Q

What is dysbindin involved in?

A

Formation of synaptic structures

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11
Q

What is neuregulin involved in?

A

Neuronal migration and genesis of glial cells and subsequent myelination of neurons by these cells

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12
Q

What is GRK3 involved in?

A

Only animal studies

Down-regulation of G-protein coupled receptors - associated with bipolar

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13
Q

Mutations leading to Alzheimers?

A

Amyloid precursor protein and presenilin 1 and 2 for as much as 50% of familiar alzheimers before 60 years og age.

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14
Q

Where is amyloid precursor protein?

A

Chr 21

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15
Q

Where is presenilin 1?

A

Chr 14

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16
Q

Where is presenilin 2?

A

Crr 1

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17
Q

Which genetic factor has highest attributable risk for Alzheimers?

A

Apolipoprotein E

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18
Q

Where is apolipoprotein E?

A

Chromosome 19q with 3 codominant alleles, differing by single base substitutions in coding region.

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19
Q

Which alleles are over and under-represented in apolipoprotein E?

A

Ancestral allele, 3, is over represented

Allele 2 is under-represnted

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20
Q

Mean age of onset of Alzheimers in those with allele 4 apolipoprotein E homozygous?

A

2 decades earlier
Also increases risk in nonwhite populations
More in females

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21
Q

Which protein is associated with both Downs and Alzheimers?

A

Chr 21 - mutant amyloid precursor protein

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22
Q

Risk of Alzheimers in first degree relatives and controls

A

15-19%

5% (controls)

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23
Q

DZ concordance rates of Alzheimers

A

40%

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24
Q

MZ concordance rates for Alzheimers

A

84%

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25
Q

What are the three different syndromes of frontotemporal lobar degenaration?

A

Frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia

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26
Q

Genes in frontotemporal lobar degeneration

A

Some patients show tau protein

Familial cases - MAPT on chromosome 17q21

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27
Q

Which gene has been located in tau-negative patients with frontotemporal lobar degenaration?

A

Progranulin gene on chromosome 17q21

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28
Q

What is progranulin?

A

Growth factor involved in round repair and inflammation by activating signalling cascades in cell cycle.
Tumrigenesis.

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29
Q

How are Lewy bodies formed?

A

Synucleinopathies - synuclein molecules aggregate in presynaptic terminals

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30
Q

Gene position of PARk 1 and 4

A

5Q21 gene

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31
Q

Protein made from PARK 1 and 4

A

Alpha-synuclein

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32
Q

Features of PARK 1, 4 inheritance in Parkinsons

A

Onset in 40s

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33
Q

Inheritance of PARk 1 and 4

A

Dominant inheritance

34
Q

Pathology in PARK 1 and 4 Parkinsons

A

Nigral degenaration with Lewy bodies

35
Q

Position of gene in PARk 2

A

6q25

36
Q

Protein made by PARK 2

A

Parkin gene

37
Q

Inheritance of PARK 2

A

Recessive

38
Q

Pathology of PARk 2

A

Nigral degeneration w/o Lewy Bodies

39
Q

Onset of PARK 2 Parkinsons

A

40-60

40
Q

Position of gene of PARK 8

A

12 cen (pericentromeric) LRRK2 gene

41
Q

Inheritance of PARK 8

A

Dominant

42
Q

Onset of PARK 8 Parkinsons

A

60

43
Q

Pathology of PARk 8 Parkinsons

A

Variable alpha-synuclein and tau pathology

44
Q

Location of gene of PARk 6

A

1p35-37 -PTEN-Induced

Kinase (PINK1) in mitochonrdia

45
Q

Inheritance of PARk 6

A

Autosomal recessive

46
Q

Onset of Parkinsons in PARk 6

A

30-40

47
Q

Location of gene of PARk 7

A

1p38 DJ-1

48
Q

Inheritance of PARK 7

A

Autosomal recessive

49
Q

Onset of Parkinsons in PARk 7

A

Autosomal recessive

50
Q

What is alpha-synuclein?

A

Protein expressed in brain, role in learning, synaptic plasticity, vesicle dynamics and dopamine synthesis

51
Q

Recurrence rate in siblings of austic children

A

2-8%

52
Q

MZ twin concordance rate of autism

A

60%

53
Q

DZ twin concordance rate for autism?

A

0%

54
Q

Heritability of autism?

A

90%

55
Q

Which chromosomes are implicated in autism?

A

2
7
15

56
Q

Possible inheritance patterns of autism?

A

AR

Sex-specific modifications

57
Q

Which gene disorder is associated with autism?

A

Fragile X - 16% of males are autistic

58
Q

Risk to first degree relatives of ADHD

A

15-60%

59
Q

Heritability of ADHD

A

70-80%

60
Q

Risk of ADHD in terms of gender?

A

Higher in males

61
Q

Largest factor for personality disorder?

A

Nearly 50%:

Nonshared, person-specific environmental variation

62
Q

Which PD has the highest heritability?

A

Antisocial - 60-70%

63
Q

Which feature has high heritability in BPD?

A

Emotional dysregulation

64
Q

Lifetime prevalence of panic disorder?

A

4.7%

65
Q

Heritability of panic disorder

A

0.43

66
Q

Which type of social phobia does not show familial transmission

A

Non-generalised, discrete social phobia

67
Q

Which phobias are 3-4 times more common in first degree relatives?

A

Specific phobias

68
Q

What do twin studies show re phobias?

A

Individual-specific environmental influences more important for simple phobies

69
Q

Risk of alcoholism in families

A

4-6x general population

70
Q

Genetic factors for alcohlism

A

Variants in GABRA2 on chromosome 4p - also related to impulse control
ADH4 - associated with earlier onset of drinking
A1 allele of DRD2

71
Q

Which enzyme breaks down EtOH?

A

Alcohol dehydrogenase

72
Q

What is EtOH broken down into?

A

Acetaldehyde and then aldehyde dehydrogenase.

73
Q

What increases genetic risk of OCD?

A

Increased severity and chronicity

74
Q

Risk of OCD to first degree relatives if onset <18?

A

10-35%

75
Q

MZ Twin concordance of OCD?

A

53-87%

76
Q

DZ twin concordance of OCD?

A

22-47%

77
Q

Tests for genetic testing?

A

Direct
Gene tracking
Prenatal identification

78
Q

What is direct testing?

A

Sample is tested for a certain genotype.

Only one person is tested.

79
Q

What is gene tracking?

A

Family members are tested to discover if suspected patient has inherited high risk chromosome from heterozygous parent.

80
Q

What does gene tracking look for?

A

Segregation of chromosome within a family.

81
Q

What is prenatal identification?

A

Test of fetus to identify suspected genotype.

MRCPsych Part A big (22 decks)

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