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GiM Flashcards

1
Q

Gleevec is also known as

A

Imantinib

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2
Q

Predictive testing is done in what condition?

A

Huntington’s disease

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3
Q

Liddle syndrome can cause

A

hypertension

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4
Q

Mutations in KCNJ10 can cause

A

epilepsy

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5
Q

The mutation t(9;22) is known as a

A

Philadephia chromosome

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6
Q

Myotonic dystrophy, Marfan syndrome and Huntington’s disease all have what inheritance pattern?

A

Autosomal dominant

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7
Q

In AD inheritance, what is the chance that offspring inherit the disease?

A

50%

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8
Q

22q11b deletion syndrome has what pattern

A

Autosomal dominant inheritance

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9
Q

The frequency with which a genotype is expressed is also known as

A

Penetrance

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10
Q

What mutation has incomplete penetrance?

A

BRCA1

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11
Q

Variation in expression is known as

A

expressivity

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12
Q

Where symptoms are apparent at a much earlier age as you go down in generations is known as

A

anticipation

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13
Q

Consanguineous relationships can mean that offspring have a high risk of what type of inheritance pattern

A

Autosomal recessive

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14
Q

In AR inheritance, what is the chance that offspring inherit the disease?

What is the risk of being a carrier?

A

25%

2/3

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15
Q

CF and many metabolic disorders have what inheritance pattern?

A

AR

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16
Q

In X-linked inheritance, who is more affected, males or females?

A

Males

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17
Q

DMD, Fragile X syndrome and colour blindness are examples of

A

X-linked inheritance

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18
Q

What factors affect phenotype expression in females?

A

X inactivation and XL dominant/recessive inheritance

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19
Q

Lyonisation is also known as

A

X inactivation

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20
Q

Random preference for the normal X chromosome to be inactivated is known as

A

Skewed X-inactivation

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21
Q

Rett syndrome shows what type of inheritance pattern

A

XL dominant

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22
Q

How many genes are there in each mitochondria?

A

27

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23
Q

What are examples of mitochondrial inherited disorders

A

Maternally inherited diabetes and deafness

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24
Q

PCR requires an excess of what

A

primers, nucleotides and enzyme

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25
Q

What temperature does Taq polymerase work at?

A

94 degrees

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26
Q

The CF mutation F508 del can be found by looking for what in PCR

A

product size

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27
Q

The connexion 26 assay looks for what in PCR

A

single base deletion

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28
Q

OLA requires an excess of what

A

normal allele specific primer
mutat allele specific primer
shared primer

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29
Q

In what conditions might PCR be difficult to do

A

If the gene is too big

If there are GC rich regions

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30
Q

Southern blotting uses

A

DNA

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31
Q

Western blotting uses

A

protein

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32
Q

Northern blotting uses

A

RNA

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33
Q

DNA is written in what direction

A

5 prime- 3 prime

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34
Q

Which carbon in DNA lacks an OH’

A

2nd

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35
Q

Replication takes place in which stage of the cell cycle?e

A

S phase

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36
Q

Which is the biggest and smaller chromosome in the human genome?

A

chromosome 1 is the biggest and chromosome 22 is the smallest

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37
Q

Approximately how many protein-coding genes are contained in our genome?

A

20,000

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38
Q

What is required for splicing?

A

The correct splice donor and acceptor

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39
Q

Alternate splicing creates

A

diversity

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40
Q

Processed genes lack

A

introns

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41
Q

Individual chromosome identification can occur with the use of what type of satellite DNA?

A

Alphoid DNA, which is found at centromeres

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42
Q

All repeats are examples of what

A

SINE (Short Interspersed Nuclear Elements)

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43
Q

In DMD, there is a frameshift and the code is read as junk, leading to the protein to be truncated. This is known as a

A

out-of-frame deletion

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44
Q

Charcot-Marie-Tooth disease is due to large

A

duplications in the genome

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45
Q

The F8C gene is inverted in what condition

A

Haemophilia A

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46
Q

How many codons code for the amino acids?

A

64

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47
Q

Arg–> Trp is an example of what type of mutation

A

non-conservative

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48
Q

T can easily be changed to methyl C via what process

A

deamination

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49
Q

cDNA is synthesised from

A

single strand RNA

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50
Q

CGG repeats occur in

A

Fragile X

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51
Q

CAG repeats occur in

A

HD and Spinocerebellar ataxias

52
Q

q=1-p can be used to calculate the frequency of

A

the normal allele

53
Q

Trisomy 18 is also known as

A

Edward’s syndrome

54
Q

What is the most common SNP?

A

C —> T

55
Q

What can be used for fingerprinting?

A

Simple repeats

56
Q

The FOXP2 gene is highly conserved and mutations in it are associated with

A

speech and language disorders

57
Q

G banded metaphase can be used to identify conditions such as

A

Kleinfelters syndrome

58
Q

the gain or loss of chromosomes is known as

A

aneuploidy

59
Q

the gain of whole sets of chromosomes is known as

A

polyploidy

60
Q

At what stage do chromatids separate?

A

anaphase II

61
Q

Trisomy 13 is also known as

A

Patau syndrome

62
Q

5th finger clinodactyly is common in what condition?

A

Downs syndrome

63
Q

polydactyly is common in what condition?

A

Patau syndrome

64
Q

Most autosomal aneuploidy is associated with

A

increased maternal age

65
Q

In sex chromosome aneuploidy, the phenotype is

A

less severe than in autosomal aneuploidy

66
Q

47, XXY is also known as

A

Kleinfelters syndrome

67
Q

45, X is also known as

A

Turners syndrome

68
Q

In what type of pregnancy will the placenta be large with a relatively normal foetus?

A

Double paternal

69
Q

In molar pregnancies, what is still produced?

A

hCG

70
Q

What type of translocation usually occurs close to the centromere?

A

Robertsonian

71
Q

t(13;15) is a

A

robertsonian translocation

72
Q

What inversion breaks in the p&q arms and does a 180 rotation?

A

Pericentric

73
Q

A high copy number of CCL3L1 leads to a

A

decreased susceptibility of HIV

74
Q

A low copy number of FCGK3B leads to an

A

increased susceptibility to inflammatory autoimmune diseases

75
Q

A low haploinsufficiency score indicates

A

a greater likelihood of pathogenicity

76
Q

QF-PCR can be used for

A

prenatal aneuploidy detection

77
Q

Meiotic pairings where there is a translocation lead to

A

Pachytene crosses

78
Q

Amniocentesis occurs at

A

16 weeks

79
Q

Increased nuchal thickening, increased B-hCG and decreased PAPP-A can point to

A

Trisomy 21

80
Q

the t(9;22) translocation is associated with

A

CML

81
Q

Retinoblastomas is an example of when cancer genes obey what hypothesis

A

two-hit hypothesis

82
Q

Most cancer syndromes show what inheritance pattern?

A

AD

83
Q

What is the purpose of diagnostic testing?

A

To identify the familial mutation

84
Q

What is the purpose of predictive testing?

A

To determine whether a relative is at risk

85
Q

What is used to diagnose Lynch syndrome?

A

Amsterdam criteria

86
Q

In what cancer should radiotherapy be avoided?

A

Li-Fraumeni syndrome

87
Q

Waardenburg syndrome causes

A

a white forelock, sensorineural hearing impairment and iris heterochromia

88
Q

DiGeorge is caused by

A

22q11.2 deletion

89
Q

‘cocktail party’ speech is common in what condition?

A

William’s syndrome

90
Q

Omaphlocele, neonatal hypoglycaemia and a large tongue are common in what condition?

A

Beckwith-Wiedemann syndrome

91
Q

premature breast development occurs in what condition?

A

Kabuki syndrome

92
Q

Blaschko’s lines may indicate

A

mosaicism

93
Q

What condition has a classic dad, son pattern?

A

Trencher-Collins syndrome

94
Q

Palmister Killian syndrome leads to

A

developmental delay

95
Q

Smith-Limli Opitz syndrome has to do with what pathway?

A

Cholesterol

96
Q

Normal distributions form what type of graph?

A

Gaussian ‘bell-shaped curve’

97
Q

In pregnancy, when should folic acid be taken to help prevent NTDs

A

1 month pre-conception to 3 months after conception

98
Q

PSEN1 and PSEN2 are both involved with what disease?

A

Alzheimer’s

99
Q

APOE4 is a polymorphism that

A

greatly increases the risk of getting Alzheimer’s

100
Q

Linkage mapping is powerful for

A

rare variants of disease

101
Q

Association mapping is powerful for

A

common variants of disease

102
Q

Linkage disequilibrium is where

A

a gene that is close in loci to a diseased gene is always inherited together

103
Q

What is a hallmark risk factor for AMD?

A

Drusen

104
Q

In a Manhattan plot, what does the Y axis show?

A

the significance

105
Q

In a Manhattan plot, what does the X axis show?

A

the position in the genome

106
Q

Where is molecular data on computerised databases stores?

A

NCBI

107
Q

What gives you information about inheritance patterns and genes?

A

OMIM

108
Q

Cisplatin and PARP inhibitors work to

A

target the BRCA genes

109
Q

NIPD can be used for what condition

A

Treacher Collins Syndrome

110
Q

Gene therapy can be used for what condition

A

Leber’s congenital amaurosis

111
Q

What inheritance pattern does LCA have?

A

Autosomal recessive

112
Q

The RPE65 gene is used as part of gene editing for what condition?

A

LCA

113
Q

What is the rate limiting step in the conversion of Tamixofen to endomixfen?

A

CYP2D6

114
Q

Androgenesis is when

A

there is only a male parent

115
Q

Parthogenesis is when

A

there is only a female patient

116
Q

Androgenesis and parthogenesis can both show as

A

46,XX

117
Q

A hydatiform mole is androgenetic so shows

A

proliferation of abnormal trophoblast tissue

118
Q

Parthogenesis presents as

A

benign ovarian teratomas

119
Q

What embryo dies at the 6 somite stage?

A

Androgenetic ones as there is poor embryo development

120
Q

Genomic imprints are found in what area of the DNA?

A

Epigenetic region

121
Q

‘Puppet children’ and ‘happy puppets’ is a phrase used to describe children with what condition?

A

Angelman syndrome

122
Q

Infantile hypotonia and hyperphagia can be seen in patients with what condition?

A

Prader-Willi syndrome

123
Q

Prader-Willi shows cytogenetic abnormalities (deletion) in which chromosomes?

A

Male chromosomes on chromosome 15

124
Q

A point mutation in the UBE3A gene accounts for 2-5% of cases of what condition?

A

Angelman syndrome

125
Q

Is the IGF2 gene is switched off in maternal or paternal genes?

A

Maternal

126
Q

In BWS, is there hypermethylation or hypomethylation? How does this affect IGF2?

A

Hypermethylation leading to increased IGF2

127
Q

What syndrome leaves children with a ‘triangular face’ and growth retardation?

A

Russell silver syndrome

EMS (2 decks)

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