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BPT Written > Genetics > Flashcards

Genetics Flashcards

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
Q

Mode of inheritance myotonic dystrophy

A

AD

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26
Q

Genetic basic of myotonic dystrophy

A

CTG trinucleotide repeat

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27
Q

Penetrance of myotonic dystrophy

A

100%

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28
Q

Myotonic dystrophy worse from which parent

A

Mother

29
Q

Average life expectancy of classical myotonic dystrophy

A

48-60, usually 50-1000 repeats

30
Q

Gene implicated in Duchenne’s

A

Dystrophin

31
Q

Mode of inheritance Duchenne’s

A

XLR

32
Q

Genetic mechanism for Duchenne’s

A

Frameshift/nonsense –> truncated/absent protein

33
Q

Normal function of dystrophin protein

A

Link actin and cell membrane, stability

34
Q

CK in Duchenne’s usually..

A

10x normal

35
Q

Cardiac involvement in Duchenne’s?

A

DCM by 18 years old

36
Q

Female carriers of Duchenne’s need surveillance for…

A

Heart failure

37
Q

Becker’s genetic mechanism

A

Missense mutation of dystrophin, protein present but altered

38
Q

CK in Becker’s usually

A

5x normal

39
Q

Cause of death in Becker’s

A

DCM in 40s

40
Q

Marfan’s gene and inheritance

A

FBN1

AD

41
Q

Diagnosis of Marfan’s

A 
First degree relative
FBN-1 gene mutation
Systemic score >7
AOrtic score >2
Ectopia lentis
42
Q

DDx Marfan’s

A

Loeys Dietz - similar skeletal features but no ectopia lentis
Gene: TGFbR1/2

43
Q

Annual surveillance in Marfan’s

A

Eye exam, TTE

44
Q

Intervene in aortic aneurysms in Marfans

A

> 5cm

Increasing >0.5-1cm/y

45
Q

Gene and inheritance of Noonan’s

A

PTPN11, AD

46
Q

Cardiac manifestations of Noonan’s

A

PV stenosis most common

HCM, ASD< VSD

47
Q

Neurofibromatosis type 1 inheritance

A

AD but 30-50% de novo, mutation in NF1 gene

48
Q

Normal role of neurofibromin

A

Negative regulator of RAS

49
Q

Risks of NF1

A

Optic pathway glioma, breast Ca, malignant nerve sheath tumour, phaeo

50
Q

Diagnostic criteria NF1

A

> /=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
Q

Gene and inheritance NF2

A

NF2 gene, AD, up to 50% de novo

52
Q

NF2 gene encodes for…

A

Merlin - links between membrane proteins/cell cytoskeleton

53
Q

Diagnostic criteria NF2

A

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
Q

Tuberous sclerosis genes are negative regulator of which pathway

A

mTOR pathway

55
Q

TSC1 gene codes for

A

Hamartin

56
Q

TSC2 gene codes for

A

Tuberin, tuberous sclerosis type 2

57
Q

Mode of inheritance tuberous sclerosis

A

AD

58
Q

Tumour locations tuberous sclerosis

A

Brain, heart, lungs, kidneys, skin

59
Q

Lung associated condition with tuberous sclerosis

A

LAM

60
Q

Main organ manifestations of tuberous sclerosis

A

CNS with epilepsy
Neuropsych
Intellectual disability
Autism

61
Q

HCM mainly involves the…

A

Sarcomere

62
Q

Main genes in HCM

A

Myosin binding protein C and beta-myosin heavy chain = 70%

63
Q

Most common gene implicated in DCM

A

Titin gene

64
Q

Which genetic cause of DCM is also very pro arrhythmic

A

LMNA

65
Q

ARVD cellular site of defect

A

Desmosomes

66
Q

Most common gene responsible for ARVD

A

PKP2

67
Q

What is Anderson-Tawil syndrome?

A

LQTS7 - LQTS + period paralysis

68
Q

CPVT gene…

A

RYR2

69
Q

Brudaga gene

A

SCN5A loss of function

BPT Written (21 decks)

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