Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

MA > Molecular Genetics and Applied Neuroscience > Flashcards

Molecular Genetics and Applied Neuroscience Flashcards

1
Q

What are the phases of the cell cycle?

A 
G1 - growth phase 1
S - synthetic phase
G2 - growth phase 2
M- mitosis phase
Cells in the quiescent G0 phase of the cycle are stimulated by growth factors (e.g. EGF, PDGF, IGF) and result in activation of transcription factors, leading to the initiation of DNA synthesis, followed by mitosis and
cell division
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

During which phase of the cell cycle are the 46 chromosomes duplicated into chromatids?

A

S

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is interphase?

A

G0 G1 S and G2 (all phases apart from mitosis)

period when the cell material is replicated and prepares for division

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What are the stages of mitosis?

A

Prophase - condensation of chromatid to form chromosomes, breakdown of the nuclear envelope and formation of spindles at opposite ends of the cell (poles)

Metaphase - alignment of chromosomes at the metaphase plate (equatorial)

Anaphase - Separation of paired chromosomes followed by migration to opposite ends of the cells

Telophase - Chromosomes are packed into distinct new nuclei. Cytokinesis (division of cytoplasm begins)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What are the phases of meoisis?

A

Meiosis I - reduction division. Crossing over occurs in prophase and there is non separation of chromatids in anaphase
Meiosis II - same as normal mitosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

How many daughter cells are produced at the end of meiosis?

A

4 (with half of the number of chromosomes)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

How many chromosomes are in human cells

A

46 (diploid) - 23 inherited from each parent

22 pairs of autosome and 2 sex chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Which cells are haploid cells?

A

Gametes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is the centromere?

What’s a metacentric chromosome?

A

constriction in the chromosome that divides it into long arm (p) and short arm (q)

Metacentric chromosome has the centromere right in the middle - so the p and q arms are of equal length

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is aneuploidy?

What causes aneuploidy?

A

When cells contain a different number of chromosomes

-non disjunction (failure of chromatids to separate)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is mocaicism?

A

When non disjunction occurs during mitosis after the gametes have fused - this leads to the formation of two cell lineages, each with different genetic makeup

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q 
What is Down syndrome?
Incidence?
Findings in pregnancy?
Clinical presentation?
Complications after childhood?
Methods of causation?
A

Trisomy 21

1:700

Reduced maternal levels of alpha fetoprotein, increased beta HCG and increased nuchal fold thickness on foetal ultrasound

LD, simian crease, prominent epicanthic fold, duodenal atresia, hypothyroidism, flat facial profile, heart disease (ASD).

Alzheimer’s and leukemia

95% meiotic non disjunction (rate 1:1500 in women <20 but 1:25 in women >40)
4% Robertsonian translocation
1% mosaicism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q 
What is Edward syndrome?
Incidence?
M:F?
Clinical presentation?
Life expectancy?
A

Trisomy 18

1: 8000
3: 1

Severe LD, rocker bottom feet, low set ears, small jaw, congenital heart disease, congenital kidney problems

Children don’t usually survive after the first year of life

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is Patau syndrome?
Incidence?
Clinical presentation?

A

Trisomy 13

1:6000

Severe LD, microphthalmia, microcephaly, cleft lip/palate, coloboma eye, polydactyly, congenital heart disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What is metafemale/superwoman syndrome?

A

XXX

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is Turner syndrome?
Incidence?
Clinical presentation?

A

XO

1:2000 female

Low hairline, broad chest, short stature, webbed neck

In 80% of cases the origin of the aneuploidy is paternal X chromosome so the X chromosome present is maternal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What is the parental origin of meiotic error leading to aneuploidy in:

  1. Patau syndrome
  2. Edward syndrome
  3. Down syndrome
  4. Turner syndrome
  5. Klinefelter syndrome
A
  1. 85% maternal
  2. 90% maternal
  3. 95% maternal
  4. 20% maternal
  5. 55% maternal
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What is a nucleotide?

A

Nucleotides are phosphorylated versions of nucleosides.

Each nucleoside consists of two components: a nitrogenous base and a pentose sugar

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What are the components of DNA?

A

Each strand of DNA is made up of a deoxyribose phosphate backbone and a series of purine (adenine (A) and guanine (G)) and pyrimidine (thymine (T) and cytosine (C)) bases of the nucleic acid.

PUGA/PYCT

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What are the possible combinations of nucleotides?

A

TA
AT
GC
CG

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What’s a codon?
What are exons?
What are introns?

A

A set of three adjacent nucleotides
each codon codes for a specific amino acid
64 possible codon combos make up genetic code

the polypeptide coding sequences in DNA are call exons
the non coding sequences are introns. there are three types: satellite, mini and microsatellite

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What’s a gene?

A

sub portion of DNA

codes for a polypeptide sequence

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

How many amino acids are there?

A

20 (10 are essential and cant be got from food)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What is replication?

A

production of new DNA copies from template

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What is transcription?

A

synthesis of RNA from nuclear DNA
transcripted RNA contains introns “junk” - hnRNA
this is spliced by nucleosomes and introns are removed - mRNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What is translation?

Where does it take place?

A

production of proteins from RNA

it takes place in the cytoplasm, aided by ribosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

What are the three steps of translation?

A

initiation, elongation and termination

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

What are modifications and where do they take place?

A

post translational changes to a protein before it becomes functionally active
occurs in the endoplasmic reticulum and golgi bodies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

What is a mutation?
What is a point mutation?
What is a frame shift mutation?

A

A sudden, permanent and heritable change in the DNA sequence

point mutation= single base alteration (substitution: transition if purine replaced by purine, transition if purine replaced by pyrimidine)

frame shift mutation - deletion/substitution is not in a multiple of three codons so there is a shift in triplet reading frame

in frame mutation - changes in bases of three so there’s no disturbance to the reading frame

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

What is a silent mutation?
What is a missense mutation?
What is a nonsense mutation?

A

silent mutation causes no change in the protein product
missense mutation - new codon specifies a different amino acid
nonsense mutation - new codon is a stop so a nonfuncting protein is produced

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

What is translocation?

A

exchange of chunks of genetic material from one chromosome to another

reciprocal = one segment exchanged for another
Robertsonian = non-reciprocal - p (short) arms are discarded and a single chromosome is formed from 2 with only trivial loss of genetic material - “balanced”
when gametes are formed only one can have the fused chromosome so there is unbalanced translocation in one gamete and trisomy in the gamete with the fused chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

What is the location of the microdeletion in DiGeorge syndrome and what is the mode of transmission?
What are the features?

A

22q11.2
Autosomal dominant

Mild-mod learning disability, cleft palate, cardiac abnormalities, hypocalcaemia, 25% chance schizophrenia/psychosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

What is the location of the microdeletion in William syndrome and what is the mode of transmission?
What are the features?

A

7q11

Hypercalcaemia, supravalvular aortic stenosis, mod ld, hyperacusis, disinhibited, litantic speech

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

What is the location of the microdeletion in Smith Magenis syndrome and what is the mode of transmission?
What are the features?

A

17p11.2

Severe to mod LD, self harming behaviour,

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

What is the location of the microdeletion in Angelman syndrome and what is the mode of transmission?
What are the features?

A

15q11-13 maternally inherited

jerky hand movements hand flapping, low IQ (happy puppet), seizures

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

What is the location of the microdeletion in Prader-Willi syndrome and what is the mode of transmission?
What are the features?

A

15q11-13 paternally inherited

obesity, short stature, skin picking, hyperphagia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

What is the location of the microdeletion in Cri du chat syndrome and what is the mode of transmission?
What are the features?

A

5p15.2

Cat like cry, feeding problems, hypertelorism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

What’s the first Mendelian law?

A

law of uniformity - if two plants differ in just one trait and are cross the resulting hybrids will be uniform

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

What’s the second Mendelian law?

A

law of segregation - for any particular trait, the pair of alleles of each parent separate and only one allele passes from each parent on to an offspring

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

What’s the third Mendelian law?

A

principle of independent assortment - different pairs of alleles are passed to offspring independently of each other so new combinations of genes not present in either parent are possible

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

What is x inactivation?

A

Normally males inherit X from mother and Y from father - Y does not contribute much genetic material so to preserve equality one female X is inactivated - this is a Barr body

random process - some cells have paternal X inactivated and others have maternal X inactivated

this inactivation occurs via methylation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

What’s the mechanism for x linked recessive conditions?

A

if recessive disease causing mutation is in man then it will cause disease as there is no other X to compensate

females need double mutation which is very rare but may happen due to unfavourabel lyonisation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

What is the location of the genetic mutation in Tuberous Sclerosis and what is the mode of transmission?

What are the features?

A

9q34/16p13 (Autosomal Dominant but most are spontaneous)

ash leaf spots, tumours, kidney cysts, mitral regurgitation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

What is the location of the genetic mutation in Treacher Collins Syndrome?

What are the features?

A

5q31

Maxilla-mandibular hypoplasia, malformed pinna, down slanting palpebrae, mild - moderate MR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

What is the location of the genetic mutation in Aspert Syndrome?

What are the features?

A

10q

craniosynostosis, shallow orbits, trapezoid mouth, mitten hands and feet

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

What is the location of the genetic mutation in Noonan Syndrome?

What are the features?

A

Chr12

short stature, pulmonary stenosis, cryptorchidism, nuchal oedema/webbed neck

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

What is the location of the genetic mutation in Hurler Syndrome and what is the mode of transmission?

What are the features?

A

4p16 (Autosomal recessive)

Deteriorating IQ after age 2, coarse facies, clouded cornea, joint stiffness

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

What is the location of the genetic mutation in Lesch-Nyhan syndrome and what is the mode of transmission?

What are the features?

A

Xq26-27 (x linked recessive)

Poor muscle control, and moderate mental retardation – year 1
Self-mutilating behaviors, characterised by lip and finger biting - by year 2
Hyperuricemia and hyperuricosuria - severe gout and kidney problems – can present anytime.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

What is anticipation?

A

anticipation is a phenomenon whereby as a genetic disorder is passed on to the next generation, the symptoms of the genetic disorder become apparent at an earlier age with each generation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q 
What are the tinucleotide expansions responsible for:
1. Fragile X syndrome
2. Friedreich AtaxiA
3 Huntington 
4. Myotonic dystrophy
A
  1. CGG
  2. GAA
  3. CAG
  4. CTG
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

What number of trinucleotide repeats is necessary for the clinical phenotype of Fragile X?

A

200

Less than this = premutation carriers
they have risk of intention tremor; women are at increased risk of premature ovarian failure/ mild cognitive or behavioural abnormalities

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

What number of trinucleotide repeats is necessary for the clinical phenotype of Huntington’s?

The CAG length is more unstable when inherited from which parent?

A

40-55 in adults
>70 in children

The CAG length is more unstable when inherited from the father

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

What is genomic imprinting?

A

Genetic imprinting involves a sex-specific process of chemical modification to the imprinted genes, so that they are expressed unequally, depending on the sex of the parent of origin.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

What is polymorphism?

A

A gene is said to be polymorphic if more than one allele occupies that gene’s locus within a population.
variant must occur in at least 1% of the population

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

What is Restriction Fragment Length Polymorphism?

A

a type of polymorphism that results from variation in the DNA sequence recognised by restriction enzymes. These are bacterial enzymes used by scientists to cut DNA molecules at known locations.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

What are SNPs?

A

To make new cells, an existing cell divides in two. But first it copies its DNA so the new cells will each have a complete set of genetic instructions. Cells sometimes make mistakes during the copying process - kind of like typos. These typos lead to variations in the DNA sequence at particular locations, called single nucleotide polymorphisms, or SNPs (pronounced “snips”).

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

What are Variable Number of Tandem Repeats?

A

repeated DNA sequences at a defined locus. The repeats are clustered together and oriented in the same direction.

Satellite

Minisatellite: 20-70 bases

Microsatellite: 2-6 bases

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

Where do most polymorphisms occur: introns or extrons?

A

Introns

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

What’s the significance of Serotonin transporter polymorphisms?

A

55% Europeans have long allele variant

Those with short allele variant - higher incidence of affective disorders, neuroticism, anxiety and PTSD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

What is Southern blotting technique?

A

used for detection of specific DNA sequence

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

What is Northern blotting technique?

A

used for detection of RNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

What is Western blotting technique?

A

detection of specific proteins after electrophoresis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
63
Q

What is PCR?

A

a process by which minute amounts of DNA are amplified over a million times. it has three steps:

  1. DNA is denatured into single strands
  2. DNA polymerase is used to extend the primers in opposite directions
  3. Cycling is set to produce necessary numbers of amplification

*it can be used to detect the presence of abnormal trinucleotide expansions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
64
Q

What is FISH?

A

a molecular cytogenetic technique that uses fluorescent probes that bind to only those parts of a nucleic acid sequence with a high degree of sequence complementarity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
65
Q

What is concordance?

A

the probability that a pair of individuals will both have a certain characteristic, given that one of the pair has the characteristic.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
66
Q

What is heritability?

A

Statistic that estimates the degree of variation in a phenotypic trait in a population that is due to genetic variation between individuals in that population. It measures how much of the variation of a trait can be attributed to variation of genetic factors, as opposed to variation of environmental factors

*worked out from concordance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
67
Q 
What is the estimated heritability of:
1 Schizophrenia?
2. Bipolar disorder 
3. Major depression 
4. Generalised anxiety 
5. Panic disorder 
6. Phobia 
7. Alcohol dependence
8. ADHD
9. Autism
A
  1. Schizophrenia? 80%
  2. Bipolardisorder >80%
  3. Major depression 40%
  4. Generalised anxiety 30%
  5. Panic disorder 40%
  6. Phobia 35%
  7. Alcohol dependence 60%
  8. ADHD 80%
  9. Autism 90%
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
68
Q

What’s the heritability of the five personality traits?

A 
Openness: 57%
Extraversion: 54%
Conscientiousness: 49%
Neuroticism: 48%
Agreeableness: 42%
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
69
Q

What are the macroscopic pathological findings of Huntington’s?

A

Frontal atrophy
Marked atrophy of the caudate and putamen
Enlarged ventricles

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
70
Q

What are the microscopic pathological findings of Huntington’s?

A

Neuronal loss and gliosis in the cortex
Neuronal loss in the striatum
Inclusion bodies in the neurons of the cortex and striatum

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
71
Q

What are the principles of the Hardy-Weinberg equilibrium?

A
  • No mutations must occur, so that new alleles do not enter the population.
  • No gene flow can occur (no migration of individuals into, or out of, the population).
  • Mating between individuals must be random (individuals must pair by chance).
  • Population must be sufficiently large that no genetic drift (random chance) can cause the allele frequencies to change.
  • Differences in genotype do not confer disparate survival or reproductive success on an individual (no natural selection occurs)
72
Q

What’s the Hardy-Weinberg equation?

A

p² + 2pq + q²= 1

p²= frequency of AA (homozygous dominant)
2pq= frequency of Aa (heterozygous)
q²= frequency of aa (homozygous recessive)

(p+q = 1) p remains 1

73
Q

Conditions with AD inheritance pattern?

A

Neurofibromatosis type 1 and 2, tuberous sclerosis, achondroplasia, Huntington disease, Noonan’s syndrome, 10% DiGeorge syndriime, Marfan

74
Q

Conditions with AR inheritance pattern?

A

Phenylketonuria, homocystinuria, Hurler’s syndrome, galactosaemia, Tay-Sach’s disease, Friedrich’s ataxia, Wilson’s disease, cystic fibrosis

75
Q

Conditions with X-Linked Dominant inheritance pattern?

A

Vitamin D resistant rickets, Rett syndrome

76
Q

Conditions with X-Linked Recessive inheritance pattern?

A

Cerebellar ataxia, Hunter’s syndrome, Lesch-Nyhan

77
Q

Conditions with mitochondrial inheritance pattern?

A

Leber’s hereditary optic neuropathy, Kearns-Sayre syndrome

78
Q

What are the genes of importance in Early onset Alzheimers?

A

amyloid precursor protein (APP) - accounts for 10-15% of EOFAD

presenilin one (PSEN-1) - accounts for 30-70% of EOFAD

presenilin two (PSEN-2) - accounts for 5% of EOFAD

*components of enzymes that cleave APP to produce amyloid beta fragments of different length

79
Q

Which chromosomes are the genes for EOFAD located on?

A

presenilin one (PSEN-1) - chromosome 14

presenilin two (PSEN-2) - chromosome 1

amyloid precursor protein (APP) - chromosome 21

80
Q

What is the gene of importance in Late onset Alzheimers?

How many alleles are there?

A

apolipoprotein E (APOE)
APOE2 - protective
APOE3 - neutral
APOE4 - increases risk by 10-30x if homozygous, 3x if heterozygous

81
Q

Which chromosomes are the genes for Late onset Alzheimers located on?

A

Chromosome 19

82
Q

What is CADASIL? Which gene and chromosome is involved?

A

CADASIL is a form of amyloid angiopathy that can
present with Alzheimer like features.
NOTCH3 is the gene involved
Chromosome 19p13.1-13.2

83
Q

What are the major tauopathies?

A

Alzheimer’s
Pick’s (frontotemporal dementia)
Progressive supranuclear palsy
Cortiocobasal degeneration

84
Q

What is the main function of the proteasome?

A

To degrade cellular proteins

85
Q

What is the best estimate for the monozygotic twin concordance of autism?
DZ twin concordance?

A

MZ - 75%

DZ - 34%

86
Q

What are the important candidate genes for schizophrenia?

A

Important Candidate genes for schizophrenia include:

DISC1 - chromosome 1
RGS4 - chromosome 1
DTNBP1 (dysbindin) - chromosome 6 (6p 22.3)
NRG1(neuregulin 1) - chromosome 8 (8p 21-22)
DRD2 - chromosome 11
G72 - chromosome 13
DAOA - chromosome 13
COMT - chromosome 22
87
Q

Amino acids are added to RNA molecules to form transfer RNA by which enzyme?

A

aminoacyl tRNA synthetase.

88
Q

What is the inheritance pattern of Kleinfelter’s syndrome?

A

Sporadic

89
Q

Which enzyme is crucial to the process of transcription?

A

Polymerase

90
Q

What is the MZ and DZ concordance rate in schizophrenia?

A

MZ concordance rate of schizophrenia = 50%

DZ concordance rate of schizophrenia = 17%

91
Q

What is an endophenotype?

A

An endophenotype is a heritable marker for a condition that is invisible to the naked eye and relies on some form of laboratory measurement.

92
Q

What are the criteria for an endophenotype?

A
  • It is associated with illness in the population
  • It is heritable
  • It is state independent (present whether or not disease is present)
  • Within families, endophenotype and illness co-segregate (the endophenotype is more prevalent among ill relatives of ill probands than healthy ones)
  • The endophenotype found in affected family members is found in non affected family members at a higher rate than in the general population.
93
Q

What is a measure of the likelihood of two loci being within a measurable distance of each other?

A

LOD score

94
Q

What is a measure of the distance between loci?

A

Recombination fraction

95
Q

What is a molecular technique used to sequence DNA??

A

Physical mapping

96
Q

What is the phenotypic variation due to modification in the way in which DNA is expressed rather than its sequence?

A

Epigenetics

97
Q

Which genes predispose people to developing frontotemporal dementia? Which chromosome are they on?

A

PGRN (progranulin), MAPT (tau)

Both on chromosome 17

98
Q

Which genes predispose people to developing Huntington’s?

A

IT15 (huntingtin)

99
Q

Which type of chromosome is most susceptible to Robertsonian translocations?

A

Acrocentric chromosomes (very small p arms)

100
Q

What is the main component of the neurofibrillary tangles seen in Alzheimer’s?

A

Tau

101
Q

Copy number variations have been most associated with which conditions?

A

autism, schizophrenia, and idiopathic learning disability.

102
Q

What is used to determine the pattern of inheritance for a trait?

A

Segregation analysis

103
Q

What’s a mosaic?

A

A mosaic is an organism that has more than one genetically-distinct population of cells that arises from a single zygote.

104
Q

A mutation in the SNCA gene that codes for alpha-synuclein has been linked to the development of which condition?

A

Parkinsons

105
Q

What is the calculation for the probandwise concordance rate?

A

number of affected twins divided by total number of co-twins

106
Q

What’s a haplotype?

A

A haplotype is a set of DNA variations, or polymorphisms, that tend to be inherited together

107
Q

A mutation affecting the transcriptional activity of a new gene associated with Alzheimers disease is reported. The mutation is most likely to be in which of the following?

A

Promoter region

108
Q

Which protein attaches to unwanted cellular proteins to label them for degradation by the proteasome?

A

ubiquitin

109
Q

What are the macroscopic changes of PSP?

A

Pallor of substantia nigra (with sparing of the locus coeruleus)
Mild midbrain atrophy
Atrophy of the superior cerebellar peduncles
Discolouration of the dentate nucleus

110
Q

What are the microscopic changes of PSP?

A

Gliosis
Neurofibrillary tangles and tau inclusions in both astrocytes and oligodendrocytes (coiled bodies), particularly in the substantia nigra, subthalamic nucleus and globus pallidus.

111
Q

Which gene is associated with frontotemporal dementia with parkinsonism?

A

MAPT gene

112
Q

An increase in Brain-derived neurotrophic factor concentrations in cortical areas compared to controls has been demonstrated for which condition?

A

Schizophrenia

113
Q

Which value of the log of odds [LOD score] is commonly used as a threshold level of significance in linkage studies?

A

More than 3

114
Q

What is the commonest type of mutations seen in thalassemia?

A

Missense

115
Q

The investigation of choice used in the diagnosis of Klinefelter’s syndrome is?

A

Karyotyping

116
Q

Which of amino acid constitute the initiation sequence of protein translation?

A

Methionine

117
Q

Which diagnosis is associated with a mutation in KISS1 gene?

A

Kallmann syndrome

118
Q

What is Kallmann syndrome?

A

Hypogonadotropic hypogonadism along with anosmia, and occasionally learning difficulties
X-linked recessive

119
Q

What is Kallmann syndrome?

A

Hypogonadotropic hypogonadism along with anosmia, and occasionally learning difficulties
X-linked recessive, autosomal dominant and autosomal recessive patterns of inheritance are observed; however, many cases are sporadic with no Mendelian inheritance pattern

120
Q

What is the value of one centiMorgan?

A

1% recombination frequency between two loci

121
Q

What is the lifetime risk of schizophrenia in the sibling of a patient?

A

The lifetime risk of schizophrenia in the sibling of a patient is 9-10%.

122
Q

Which phenomena explain most of the epigenetic variations?

A

DNA methylation and histone modification

123
Q

A mutation in the shank3 gene is associated with which condition?

A

Autism

124
Q

What percentage of the human genome is considered to be active with coding sequences?

A

2%

125
Q

The process by which one gene gives rise to more than one protein is called?

A

Alternate splicing

126
Q

In Robertsonian translocation, the fusion usually occurs where in the cell?

A

Centromere

127
Q

Which of the enzyme mediates the binding of tRNA with amino acids?

A

Aminoacyl synthetase

128
Q

Absence of ankle jerks with upgoing plantars is noted in?

A

Subacute combined degeneration of spinal cord

129
Q

Which psychological test is used in research on animal models of depression?

A

Forced swim test

130
Q

What are the frontal lobe tests?

A

verbal fluency tests, category tests, trail making test and Wisconsin card sorting test, Stroop colour word interference test

131
Q

What are the temporal lobe tests?

A

Benton visual retention test, speech sound perception test, seashore rhythms test and revised Wechsler memory scale

132
Q

Those with alexia and agraphia are also likely to exhibit which problem?

A

Right visual field defect

133
Q

Double vision that is present only on horizontal gaze is seen in which CN palsy?

A

Isolated 6th nerve

134
Q

A reduction in the score on the Seashore Musical Aptitude Test may be seen in which type of brain lesion?

A

Right temporal area damage

135
Q

Which dementia presents with progressive loss of memory for ‘words’ but good day-to-day memory for events?

A

Frontotemporal dementia

136
Q

Which test can differentiate organic from psychiatric stuporous states?

A

Caloric testing - in organic stupor thiswill usually reveal tonic deviation whereas in a psychiatric stupor (catatonia/depression) ocular nystagmus will be present

137
Q

In delirium, which domain of orientation is the first to be affected?

A

Time

138
Q

The clinical sign of finger-nose ataxia is seen in lesions of which structure?

A

Inferior olivary nucleus

139
Q

Which subtest of Wechsler Adult Intelligence Scale (WAIS) declines with aging?

A

Block design

140
Q

What is noted when the temporal order of memory is disturbed leading to out-of-context retrieval?

A

Confabulation

141
Q

ZNF804A polymorphism is implicated in which condition?

A

Schizophrenia

142
Q

Which genes predispose people to developing Parkinsons?

A

LRRK2, PINK1, Alpha-synuclein

143
Q

This consists of ten tests, including the trail making test and critical flicker frequency test

A

Halstead-Reitan battery of neuropsychological tests

144
Q

This consists of 120 items plus several alternative tests, applicable to the ages between 2 years and adulthood.

A

Stanford-Binet intelligence scale

145
Q

This test results can reveal whether a subject has amnestic Korsakoff’s syndrome

A

Wechsler memory scale

146
Q

This is a test of intelligence, considered to be free of sociocultural bias.

A

Raven’s progressive matrices - tests non-verbal intelligence

147
Q

Which test gives a fast estimate of current performance IQ?

A

Raven’s progressive matrices

148
Q

Which test estimates the premorbid IQ level?

A

National adult reading test

149
Q

Which test is a part of the WAIS verbal subtests?

A

Digit span

150
Q

Left dorsolateral prefrontal cortex lesion is most likely to be impair which test result ?

A

Wisconsin Card Sorting Test (executive function)

151
Q

What is a test of visual memory ?

A

Rey-Osterreith test - subject copies a complex figure made of basic geometric shapes and then draws it from memory

152
Q

What is a test of verbal memory?

A

Paired associate learning test

153
Q

What’s a test to determine organic brain disease?

A

Halstead & Reitan developed a battery of tests that was used to determine the location and the effects of specific brain lesions - includes the trail making test and critical flicker frequency test

Luria-Nebraska battery can screen for the presence of a significant brain injury

154
Q

Which test measures set shifting abilities and response inhibition?

A

Stroop test

155
Q

Which test measures visuospatial and perceptuomotor speed?

A

trail making test

156
Q

Which test is a screening measure for signs of organic dysfunction?

A

Bender Visual Motor Gestalt Test

157
Q

What are the behavioural tests for visuospatial memory?

A

radial arm maze test
The Morris water navigation task
The T-maze test

158
Q

What are the behavioural tests for sensorimotor gating?

A

Latent inhibition test

159
Q

What are the behavioural tests for depression?

A

Yoked shock test

Forced swim test

160
Q

What are the behavioural tests for anxiety?

A

Light-dark box

Elevated plus maze

161
Q

What type of study is used to identify a specific disease locus?

A

Association studies

162
Q

What type of study is used to establish chromosomal location of a disease locus?

A

Linkage studies

163
Q

What type of study is used to implicate molecular pathways?

A

Transgenic studies

164
Q

What type of study is used to determine whether a disease is familial or not?

A

Family study

165
Q

What type of study is used to determine the relative contribution of genetic and environmental factors in a disease?

A

Twin studies

Adoption studies

166
Q

What is used in experiments to decrease gene expression?

A

Si- RNA

167
Q

What provides a bridge between m-RNA and amino acids?

A

t-RNA

168
Q

Which enzyme attaches amino acids to t-RNA?

A

Aminoacyl t-RNA synthetase

169
Q

What are the tract of fibres that connect frontal and temporal lobes?

A

Superior longitudinal fasciculus

Uncinate fasciculus,

170
Q

What are the dominant structures involved in stereotactic brain mapping?

A

Anterior commissure

Posterior commissure

171
Q

Which tract plays a crucial role in object recognition?

A

Inferior longitudinal fasciculus

172
Q

EEG findings in Alzheimer’s

A

reduced alpha wave

173
Q

EEG findings in partial seizures

A

largely localised spike or spike-wave discharges

174
Q

EEG findings in psychopathy and ASPD

A

Immature posterior temporal slow waves are reported in psychopathy

175
Q

EEG findings in delirium

A

generalised increased delta waves and some alpha wave activity

MA (5 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions