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Genetics Flashcards

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1
Q

Mechanism of Prader-Willi

A

70% deletion of paternal 15q11

25% uniparental disomy chromosome 15 (from mum)

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2
Q

Mechanism of Angelmans

A

70% deletion maternal 15q12
5-10% UBE3A mutation
5% paternal UPD ch15

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3
Q

What gestation for chorionic villus sampling, and risk of miscarriage?

A

> 11/40

1-2%

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4
Q

Gestation for amniocentesis and miscarriage risk

A

> 16/40

0.5-1%

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5
Q

Imprinting means:

A

Allele from a particular parent is switched off

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6
Q

Trisomy 21 is

A

Down’s

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7
Q

Trisomy 13 is

A

Patau

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8
Q

Trisomy 18 is

A

Edward

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9
Q

First trimester screen includes what tests

A

bHCG, PAPP-A, nuchal translucency

Trisomies - elevated bHCG and NTS, low PAPP-A

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10
Q

Klinefelters =

A

Extra X chromosome (47XXY most common), more X’s = worse disease

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11
Q

Central issue in Klinefelters

A

Androgen deficiency

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12
Q

Disease associations in Klinefelters

A

VTE, metabolic syndrome, cancer

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13
Q

Cause of DiGeorge syndrome?

A

Del22q11.2

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14
Q

Manifestations of DiGeorge

A 
CATCH22
Cardiac (TOF/VSD)
Abnormal face
Thymus hypoplasia (T def)
Hypocalc, hypoPTH
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15
Q

Diagnosis of DiGeorge

A

FISH

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16
Q

Huntington’s disease mode of inheritance

A

AD

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17
Q

Genetic basis of Huntington’s

A

CAG trinucleotide repeat disorder

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18
Q

Full penetrance of HD at which number of repeats

A

40

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19
Q

Juvenile onset HD at which number of repeats

A

60

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20
Q

HD worse from which parent

A

Father, instability of CAG triplet in spermatogenesis

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21
Q

Spinocerebellar ataxia mode of inheritance

A

AD

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22
Q

Age of onset SCA

A

30-40

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23
Q

How many forms of spinocerebellar ataxia

A

> 40

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24
Q

Gene implicated in myotonic dystrophy

A

Dystrophin myotonica protein kinase

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25
Mode of inheritance myotonic dystrophy
AD
26
Genetic basic of myotonic dystrophy
CTG trinucleotide repeat
27
Penetrance of myotonic dystrophy
100%
28
Myotonic dystrophy worse from which parent
Mother
29
Average life expectancy of classical myotonic dystrophy
48-60, usually 50-1000 repeats
30
Gene implicated in Duchenne's
Dystrophin
31
Mode of inheritance Duchenne's
XLR
32
Genetic mechanism for Duchenne's
Frameshift/nonsense --> truncated/absent protein
33
Normal function of dystrophin protein
Link actin and cell membrane, stability
34
CK in Duchenne's usually..
10x normal
35
Cardiac involvement in Duchenne's?
DCM by 18 years old
36
Female carriers of Duchenne's need surveillance for...
Heart failure
37
Becker's genetic mechanism
Missense mutation of dystrophin, protein present but altered
38
CK in Becker's usually
5x normal
39
Cause of death in Becker's
DCM in 40s
40
Marfan's gene and inheritance
FBN1 | AD
41
Diagnosis of Marfan's
``` First degree relative FBN-1 gene mutation Systemic score >7 AOrtic score >2 Ectopia lentis ```
42
DDx Marfan's
Loeys Dietz - similar skeletal features but no ectopia lentis Gene: TGFbR1/2
43
Annual surveillance in Marfan's
Eye exam, TTE
44
Intervene in aortic aneurysms in Marfans
>5cm | Increasing >0.5-1cm/y
45
Gene and inheritance of Noonan's
PTPN11, AD
46
Cardiac manifestations of Noonan's
PV stenosis most common | HCM, ASD< VSD
47
Neurofibromatosis type 1 inheritance
AD but 30-50% de novo, mutation in NF1 gene
48
Normal role of neurofibromin
Negative regulator of RAS
49
Risks of NF1
Optic pathway glioma, breast Ca, malignant nerve sheath tumour, phaeo
50
Diagnostic criteria NF1
>/=6 cafe au lait patches >/=2 neurofibromas or one plexiform neurofibroma Axillary or groin freckling Lisch nodules (iris hamartomas) Optic pathway glioma FHx (1 x FDR) Distinctive osseous lesion (sphenoid wing dysplasia, thinning of long bone cortex +/- pseudoarthrosis)
51
Gene and inheritance NF2
NF2 gene, AD, up to 50% de novo
52
NF2 gene encodes for...
Merlin - links between membrane proteins/cell cytoskeleton
53
Diagnostic criteria NF2
1 of: - Bilaterla vestibular schwannoma - 1 x FDR with NF2 and unilat vest schwann OR any two of meningioma, schwann, glioma, neurofibroma, posterior subcapsular lenticular opacities - Multiple meningiomas AND unilat vest schwann, any two of schwann, glioma, neurofibroma, posterior subcapsular lenticular opacities
54
Tuberous sclerosis genes are negative regulator of which pathway
mTOR pathway
55
TSC1 gene codes for
Hamartin
56
TSC2 gene codes for
Tuberin, tuberous sclerosis type 2
57
Mode of inheritance tuberous sclerosis
AD
58
Tumour locations tuberous sclerosis
Brain, heart, lungs, kidneys, skin
59
Lung associated condition with tuberous sclerosis
LAM
60
Main organ manifestations of tuberous sclerosis
CNS with epilepsy Neuropsych Intellectual disability Autism
61
HCM mainly involves the...
Sarcomere
62
Main genes in HCM
Myosin binding protein C and beta-myosin heavy chain = 70%
63
Most common gene implicated in DCM
Titin gene
64
Which genetic cause of DCM is also very pro arrhythmic
LMNA
65
ARVD cellular site of defect
Desmosomes
66
Most common gene responsible for ARVD
PKP2
67
What is Anderson-Tawil syndrome?
LQTS7 - LQTS + period paralysis
68
CPVT gene...
RYR2
69
Brudaga gene
SCN5A loss of function

BPT Written (21 decks)

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