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STEPH BPT 2021 > Genetics > Flashcards

Genetics Flashcards

1
Q

Karyotype for Turners

A

XO

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2
Q

Karyotype for Edwards Syndrome

A

Trisomy 18

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3
Q

Karyotype for Klinefelter syndrome

A

XXY

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4
Q

Genetic defect in Noonan’s syndrome

A

Defect in the Ras/MAPK signaling pathway

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5
Q

Genetic Inheritance of Huntington’s Disease

A

Autosomal Dominant
CAG triplet repeats on chromosome 4
Index cases can occur due to a de novo mutation or due to anticipation

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6
Q

Kleinfelter hormone findings + clinical manifestations

A

High FSH and LH, low testosterone

Small penis and balls
Risk of DM, CVD, cancer

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7
Q

In what clinical situation is the CGH microarray most useful for?

A

Chromosomal microdeletion

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8
Q

What is the mechanism of somatic chromosomal translocation in causing cancer?

A

Gene fusion

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9
Q

Duchenne MD gene mutation

A

Multi exon deletion

X chromosome linked

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10
Q

Tuberous sclerosis

A

Low intelligence
Epilepsy
Adenine sebacium

Autosomal dominant

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11
Q

DiGeorge

A 
CATCH22 
Chromosome 22 deletion 
Cardiac defect tetralogy fallout
Abnormal facies 
Thymic aplastic with infections
Cleft palates
Hypocalcaemia
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12
Q

Purines

A

Adenine
Guarnine
2 ring structure

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13
Q

Pyramidines

A

Cytosine
Uracil (RNA)
Thymine (DNA)
Single ring structure

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14
Q

What happens during G2 phase of the cell cycle

A

Cell is preparing for mitosis

Microtubule productin

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15
Q

What happens during G1 phase of the cell cycle

A

The cell grows and synthesid of mRNA and proteins including histones. The volume of the cytoplasm is increased

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16
Q

What happens during S phase of the cell cycle

A

DNA synthesis

Chromosome duplication

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17
Q

What does telemorase ribonucleoprotein do?

A

Adds base pairs to DNA to cap the DNA

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18
Q

interfering mRNAs (micro-RNAs) action

A

mRNA degradation

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19
Q

Missense mutation

A

A substitution in one DNA base pair that changes the codon for one amino acid to the codon for another amino acid

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20
Q

Nonsense mutation

A

A substituation of a DNA base that changes a codon to a stop codon

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21
Q

Splice site mutation

A

Intron or exon exon deletion

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22
Q

frameshift mutation

A

deletion of 1 nucleotide within 1 exon

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23
Q

Mutation seen in Duchenne muscular dystrophy

A

Deletion of multiple exons (splicing)

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24
Q

PARP-1 action

A

required for base excision repair (BER)

25
Q

Mechanism of somatic chromosomal translocation in causing cancer?

A

Gene fusion

26
Q

Examples of alleilic heterogeneity

A

Same gene location
Different allele mutations
Same Disease

CF
MEN

27
Q

Examples of Locus (non-allelic) heterogeneity

A

Different genes
Same Disease

BRCA-1/2
HOCM
Familial hypercholesterolaemia
Ehndler-Danlos
Retinitis Pigmentosum
28
Q

Transmission of mitochondrial mutation

A

Heteroplasmy with mitochondrial inheritence (from mother with all children affected)

29
Q

Barr body

A

Inactivated X chromosome due to lyonisation

30
Q

Pleiotropy

A

One mutation affecting multiple organs

e.g. CTFR in CF

31
Q

Epistasis

A

One gene impacts on the expression of others

e.g. albinism

32
Q

Gene mutation in Fragile X

A

CGG repeats leading to silencing of FMR-1 gene

X-linked dominant pattern

33
Q

Features of fragile X

A 
Long narrow face
Large ears
prominent jaw
Enlarged testicles
Mental retardation
34
Q

Genetics of prader-willi syndrome

A

Disruption or deletion of genes in chromosome 15

35
Q

Clinical features of prader willi-syndrome

A 
Small statue
Small hands and feet
Central obesity
Intellectual disability
Characteristic behaviours
36
Q

Type of mutation leading to a proto-oncogene

A

Missense

37
Q

Tays-Sachs mutation

A

Frameshift muation

38
Q

In frame deletion

A

Deletion of 3 base pairs

39
Q

Linkage disequilibrium

A

Non-random associations between polymorphisms at different loci

40
Q

Marfan’s gene

A

FBN-1 gene

41
Q

Noonan’s syndrome clinical

A 
Autosomal dominant 
Short stature 
Variable intellectual disability
Pulmonary stenosis  (also HOCM, ASD, VSD)
42
Q

Treatment of AF in HOCM

A

Anticoagulate (warfarin) despite CHADVASC

43
Q

When to avoid stress ECG/Echo

A

LBBB

44
Q

Heart block in which atropine should not be used

A

Mobitz type 2

45
Q

Fabry disease

A 
GL-3 ubiquitous accumulation 
X Linked recessive 
GI symptoms 
Kidney failure
Cardiac hypertrophy, arrhythmia, valvulopathy
Peripheral neuropathy
Stroke
46
Q

Still’s disease

A 
Fever
Arthralgia
Salmon-rash
LN
Organomegaly
47
Q

Li-Fraumeni Disease

A

Autosomal dominant
p53 suppressor gene mutation
Cancers at ~25yo
sarcomas, breast, leukaemia

48
Q

Peutz jager disease

A 
Autosomal dominant STK11 gene 
Harmatomous polyps GIT
Pigmented macules (lips)
Risk of Ca GIT, pancreas, breast, ovary
49
Q

Neurofibromatosis 1

A

Autosomal dominant
NF-1 gene for neurofibromin

Cafe-aut-lait spots
Lisch nodules
Cognitive impairment 
Neurofibromas
Bony lesion
50
Q

Neurofibromatosis 2

A

bilateral acoustic schwannomas and meningiomas
No lisch nodules
Schwannomas
Less cognitive impairment

51
Q

Tuberous Sclerosis

A

Autosomal dominat
TSC1 - hamartic
TSC2 - tuberin

Skin - hypopigmented lesion, angiofibromas, shagreen patched
Tumours- brain, heart (rhabdomyoma), skin, eyes, kidney (angiomyolipomas), lung, and liver.

52
Q

Charcot-Marie-Toot disease

A

Autosomal dominal PMP-22 gene coding for myelin

Peripheral motor and sensory neruopathy

53
Q

Myotonic dystrophy

A

Autosomal dominant
T1: DMPL genge
Type 2: CNBP gene

Myotonia
Characteristic facies - hatchet facies
Fatigue
Cataracts
Cardaic abnormalities
54
Q

Tay-Sachs disease

A

Autosomal recessive
Lysosomal storage disorder - HEXA gene

Neurodegenerative disorder, children die at 4

55
Q

Duchenne/Becker Muscular dystropy

A

X Linked Recessive
Dystrophin gene

Intellectual disability
Heart failure
Muscle and respiratory weakness

56
Q

Freidrich’s ataxia

A 
Autosomal recessive 
Mitochondrial dysfunction  (GAA triplet repeat)

Ataxia
HOCM
Diabetes

57
Q

Alport syndrome

A

X Linked dominant

Type 4 collagen - ears, lens, kidney issues

58
Q

Rett syndrome

A

X Linked Dominant- MECP2

Affects brain development in girls

STEPH BPT 2021 (16 decks)

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